Allele Registry

Canonical Allele Identifier: PA645433332

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000394463

RCV001248350

RCV002252084

RCV003352822

RCV003992262

ClinVar Variation:

287891

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