Allele Registry

Canonical Allele Identifier: PA2830146577

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000653502

RCV000730640

RCV001139020

ClinVar Variation:

542954

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Asn1105Ser	CA2189041 NM_057165.5:c.3314A>G