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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:
CA2578445438
Gene: ADRB2
HGNC
NCBI
Linked Data
gnomAD v4:
5-148826794-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148826799del , CM000667.2:g.148826799del
GRCh38
NC_000005.9:g.148206362del , CM000667.1:g.148206362del
GRCh37
NC_000005.8:g.148186555del
NCBI36
NG_016421.1:g.5207del
NG_016421.2:g.5207del
Transcript Alleles
HGVS
Amino-acid change
ENST00000305988.6:c.-33del
MANE Select
ENSP00000305372.4:n.-33del
ENST00000305988.5:c.-33del
ENSP00000305372.4:n.-33del
NM_000024.5:c.-33del
NP_000015.1:n.-33del
NM_000024.6:c.-33del
MANE Select
NP_000015.2:n.-33del
Search 100 bp 5'
Search 100 bp 3'