ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA658684335
Gene:
Linked Data
dbSNP Id:
rs1556457962
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.631133A>T , CM000686.2:g.631133A>T
GRCh38
NC_000024.9:g.541868A>T , CM000686.1:g.541868A>T
GRCh37
NC_000024.8:g.511868A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000711141.1:c.236A>T
ENSP00000518639.1:p.Lys79Met
ENST00000711142.1:c.236A>T
ENSP00000518640.1:p.Lys79Met
ENST00000711143.1:c.236A>T
ENSP00000518641.1:p.Lys79Met
ENST00000711145.1:c.236A>T
ENSP00000518642.1:p.Lys79Met
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