Allele Registry

Canonical Allele Identifier: PA2830146088

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

285449

ClinVar RCV:

RCV000327990

RCV002523126

RCV003144226

RCV003168508

ClinVar Variation:

335135

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.His524Arg	CA2189460 NM_057165.5:c.1571A>G