Allele Registry

Canonical Allele Identifier: PA645434563

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000353251

RCV000653559

RCV001141921

ClinVar Variation:

281964

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Asp979Asn	CA10073105 NM_001849.4:c.2935G>A