Allele Registry

Canonical Allele Identifier: PA645433697

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

350926

ClinVar RCV:

RCV000344482

RCV000401616

RCV000804442

RCV003430869

ClinVar Variation:

340381

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Thr864Met	CA10072940 NM_001849.4:c.2591C>T