Allele Registry

Canonical Allele Identifier: PA215989

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

71513

ClinVar RCV:

RCV000050245

RCV001853072

ClinVar Variation:

56907

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Gly1458Ser	CA215987 NM_057166.5:c.4372G>A