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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:
CA2610980704
Gene: ADRB1
HGNC
NCBI
Linked Data
gnomAD v4:
10-114043978-AGGCGCCC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.114043986_114043992del , CM000672.2:g.114043986_114043992del
GRCh38
NC_000010.10:g.115803745_115803751del , CM000672.1:g.115803745_115803751del
GRCh37
NC_000010.9:g.115793735_115793741del
NCBI36
NG_012187.1:g.4940_4946del
Transcript Alleles
HGVS
Amino-acid change
ENST00000369295.4:c.-147_-141del
MANE Select
ENSP00000358301.2:n.-147_-141del
NM_000684.3:c.-147_-141del
MANE Select
NP_000675.1:n.-147_-141del
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