Allele Registry

Canonical Allele Identifier: PA295292

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

172265

ClinVar RCV:

RCV000559107

ClinVar Variation:

162541

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Gly304Val	CA295290 NM_001849.4:c.911G>T