Allele Registry

Canonical Allele Identifier: PA148100

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000081023

RCV000365788

RCV001516614

RCV001664377

RCV001664378

ClinVar Variation:

95018

HGVS (amino-acid)	Matching Registered Transcripts
NP_004360.2:p.Thr3069Ile	CA148098 NM_004369.4:c.9206C>T