Allele Registry

Canonical Allele Identifier: PA645401235

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

257545

ClinVar RCV:

RCV000247019

RCV000766392

RCV001854959

RCV004021007

ClinVar Variation:

258298

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Ala838Thr	CA10070947 NM_001848.3:c.2512G>A