Allele Registry

Canonical Allele Identifier: PA147428

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000079842

RCV000323060

RCV000382221

RCV001516828

RCV001664309

ClinVar Variation:

93903

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Ser399Asn	CA147426 NM_001849.4:c.1196G>A