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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1590223438
Gene: ADRB2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148826706_148826707delinsAC , CM000667.2:g.148826706_148826707delinsAC
GRCh38
NC_000005.9:g.148206269_148206270delinsAC , CM000667.1:g.148206269_148206270delinsAC
GRCh37
NC_000005.8:g.148186462_148186463delinsAC
NCBI36
NG_016421.1:g.5114_5115delinsAC
NG_016421.2:g.5114_5115delinsAC
Transcript Alleles
HGVS
Amino-acid change
ENST00000305988.6:c.-126_-125delinsAC
MANE Select
ENSP00000305372.4:n.-126_-125delinsAC
ENST00000305988.5:c.-126_-125delinsAC
ENSP00000305372.4:n.-126_-125delinsAC
NM_000024.5:c.-126_-125delinsAC
NP_000015.1:n.-126_-125delinsAC
NM_000024.6:c.-126_-125delinsAC
MANE Select
NP_000015.2:n.-126_-125delinsAC
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