Allele Registry

Canonical Allele Identifier: PA645455039

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

285449

ClinVar RCV:

RCV000327990

RCV002523126

RCV003144226

RCV003168508

ClinVar Variation:

335135

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.His730Arg	CA2189460 NM_004369.4:c.2189A>G