Allele Registry

Canonical Allele Identifier: PA2830149033

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000327990

RCV002523126

RCV003144226

RCV003168508

ClinVar Variation:

335135

HGVS (amino-acid)	Matching Registered Transcripts
NP_476508.2:p.His524Arg	CA2189460 NM_057167.4:c.1571A>G