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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:
CA370695700
Gene: ADRB3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr8:g.37823615T>A (hg19)
chr8:g.37966097T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.37966097T>A , CM000670.2:g.37966097T>A
GRCh38
NC_000008.10:g.37823615T>A , CM000670.1:g.37823615T>A
GRCh37
NC_000008.9:g.37942772T>A
NCBI36
NG_011936.1:g.5570A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000345060.5:c.373A>T
MANE Select
ENSP00000343782.3:p.Ile125Phe
ENST00000520341.2:n.501A>T
ENST00000345060.4:c.373A>T
ENSP00000343782.3:p.Ile125Phe
ENST00000614635.1:c.373A>T
ENSP00000480325.1:p.Ile125Phe
NM_000025.2:c.373A>T
NP_000016.1:p.Ile125Phe
NM_000025.3:c.373A>T
MANE Select
NP_000016.1:p.Ile125Phe
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