Allele Registry

Canonical Allele Identifier: PA2830147403

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

274758

ClinVar RCV:

RCV000340601

RCV001403783

ClinVar Variation:

290521

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Ser1005Leu	CA2188810 NM_057166.5:c.3014C>T