Allele Registry

Canonical Allele Identifier: PA658810960

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000653584

RCV003144452

ClinVar Variation:

542994

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Arg862Trp	CA10072936 NM_001849.4:c.2584C>T