Canonical Allele Identifier: PA645433332
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 287891
ClinVar RCV Id: RCV000394463 RCV001248350 RCV002252084 RCV003992262 RCV003352822
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg521Gln
CA10071977
NM_001849.4:c.1562G>A