Allele Registry

Canonical Allele Identifier: PA148088

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

100914

ClinVar RCV:

RCV000081019

RCV000261014

RCV001516615

RCV001664375

RCV001664376

ClinVar Variation:

95014

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Ala3012Pro	CA148086 NM_004369.4:c.9034G>C