Allele Registry

Canonical Allele Identifier: PA275348

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000179391

ClinVar Variation:

198136

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Gly271Asp	CA275346 NM_001849.4:c.812G>A