Allele Registry

Canonical Allele Identifier: PA645401307

Gene: COL6A1 HGNC NCBI

ClinVar Allele:

268361

ClinVar RCV:

RCV000306204

RCV000803200

RCV003352820

ClinVar Variation:

284124

HGVS (amino-acid)	Matching Registered Transcripts
NP_001839.2:p.Arg964Trp	CA10071064 NM_001848.3:c.2890C>T