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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:
CA378439978
Gene: ADRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2376162
ClinVar RCV Id:
RCV003006888
dbSNP Id:
rs2119528070
MyVariant Identifiers:
chr10:g.115803962A>C (hg19)
chr10:g.114044203A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.114044203A>C , CM000672.2:g.114044203A>C
GRCh38
NC_000010.10:g.115803962A>C , CM000672.1:g.115803962A>C
GRCh37
NC_000010.9:g.115793952A>C
NCBI36
NG_012187.1:g.5157A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000369295.4:c.71A>C
MANE Select
ENSP00000358301.2:p.Asp24Ala
ENST00000369295.3:c.71A>C
ENSP00000358301.2:p.Asp24Ala
NM_000684.2:c.71A>C
NP_000675.1:p.Asp24Ala
NM_000684.3:c.71A>C
MANE Select
NP_000675.1:p.Asp24Ala
Search 100 bp 5'
Search 100 bp 3'