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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:
CA1590223702
Gene: ADRB2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148827344_148827345delinsGC , CM000667.2:g.148827344_148827345delinsGC
GRCh38
NC_000005.9:g.148206907_148206908delinsGC , CM000667.1:g.148206907_148206908delinsGC
GRCh37
NC_000005.8:g.148187100_148187101delinsGC
NCBI36
NG_016421.1:g.5752_5753delinsGC
NG_016421.2:g.5752_5753delinsGC
Transcript Alleles
HGVS
Amino-acid change
ENST00000305988.6:c.513_514delinsGC
MANE Select
ENSP00000305372.4:p.Met171=
ENST00000305988.5:c.513_514delinsGC
ENSP00000305372.4:p.Met171=
NM_000024.5:c.513_514delinsGC
NP_000015.1:p.Met171=
NM_000024.6:c.513_514delinsGC
MANE Select
NP_000015.2:p.Met171=
Search 100 bp 5'
Search 100 bp 3'