Allele Registry

Canonical Allele Identifier: PA2830145786

Gene: COL6A3 HGNC NCBI

ClinVar RCV:

RCV000387918

RCV001320693

ClinVar Variation:

287135

HGVS (amino-acid)	Matching Registered Transcripts
NP_476506.3:p.Arg157His	CA2189710 NM_057165.5:c.470G>A