Allele Registry

Canonical Allele Identifier: PA295266

Gene: COL6A2 HGNC NCBI

ClinVar RCV:

RCV000593309

RCV000810925

ClinVar Variation:

162532

HGVS (amino-acid)	Matching Registered Transcripts
NP_001840.3:p.Gly286Glu	CA295264 NM_001849.4:c.857G>A