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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:
CA2675882436
Gene: ADRB2
HGNC
NCBI
Linked Data
gnomAD v4:
5-148826683-C-CT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.148826684dup , CM000667.2:g.148826684dup
GRCh38
NC_000005.9:g.148206247dup , CM000667.1:g.148206247dup
GRCh37
NC_000005.8:g.148186440dup
NCBI36
NG_016421.1:g.5092dup
NG_016421.2:g.5092dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000305988.6:c.-148dup
MANE Select
ENSP00000305372.4:n.-148dup
ENST00000305988.5:c.-148dup
ENSP00000305372.4:n.-148dup
NM_000024.5:c.-148dup
NP_000015.1:n.-148dup
NM_000024.6:c.-148dup
MANE Select
NP_000015.2:n.-148dup
Search 100 bp 5'
Search 100 bp 3'