Allele Registry

Canonical Allele Identifier: PA645400596

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

269307

ClinVar RCV:

RCV000336707

RCV002518958

ClinVar Variation:

285070

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Thr104Met	CA10069523 NM_001848.3:c.311C>T