Allele Registry

Canonical Allele Identifier: PA645434452

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

269955

ClinVar RCV:

RCV000286874

RCV000653507

RCV001139297

RCV001330654

ClinVar Variation:

285718

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Val929Met	CA10073022 NM_001849.4:c.2785G>A