Allele Registry

Canonical Allele Identifier: PA645433531

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

274846

ClinVar RCV:

RCV000278481

RCV000699042

RCV001139200

RCV003343746

ClinVar Variation:

290609

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Thr828Met	CA10072902 NM_001849.4:c.2483C>T