Allele Registry

Canonical Allele Identifier: PA645433005

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

269958

ClinVar RCV:

RCV000305547

RCV000338896

RCV000406254

RCV001347096

ClinVar Variation:

285721

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Pro111Leu	CA10071263 NM_001849.4:c.332C>T