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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:
CA2610980751
Gene: ADRB1
HGNC
NCBI
Linked Data
gnomAD v4:
10-114044004-C-CA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.114044004_114044005insA , CM000672.2:g.114044004_114044005insA
GRCh38
NC_000010.10:g.115803763_115803764insA , CM000672.1:g.115803763_115803764insA
GRCh37
NC_000010.9:g.115793753_115793754insA
NCBI36
NG_012187.1:g.4958_4959insA
Transcript Alleles
HGVS
Amino-acid change
ENST00000369295.4:c.-129_-128insA
MANE Select
ENSP00000358301.2:n.-129_-128insA
NM_000684.3:c.-129_-128insA
MANE Select
NP_000675.1:n.-129_-128insA
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