Allele Registry

Canonical Allele Identifier: PA916054433

Gene: COL6A2 HGNC NCBI

ClinVar Allele:

172266

ClinVar RCV:

RCV000735128

RCV001138979

RCV001330649

RCV002514869

ClinVar Variation:

162534

HGVS (amino-acid)	Matching Registered Transcripts
NP_478055.2:p.Arg489Trp	CA295270 NM_058175.3:c.1465C>T