Allele Registry

Canonical Allele Identifier: PA2830147919

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

100865

ClinVar RCV:

RCV000080970

RCV002514420

ClinVar Variation:

94965

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ala1601Ser	CA222640 NM_057166.5:c.4801G>T