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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:
CA2578445441
Gene: ADRB2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148826803_148826808del , CM000667.2:g.148826803_148826808del
GRCh38
NC_000005.9:g.148206366_148206371del , CM000667.1:g.148206366_148206371del
GRCh37
NC_000005.8:g.148186559_148186564del
NCBI36
NG_016421.1:g.5211_5216del
NG_016421.2:g.5211_5216del
Transcript Alleles
HGVS
Amino-acid change
ENST00000305988.6:c.-29_-24del
MANE Select
ENSP00000305372.4:n.-29_-24del
ENST00000305988.5:c.-29_-24del
ENSP00000305372.4:n.-29_-24del
NM_000024.5:c.-29_-24del
NP_000015.1:n.-29_-24del
NM_000024.6:c.-29_-24del
MANE Select
NP_000015.2:n.-29_-24del
Search 100 bp 5'
Search 100 bp 3'