Allele Registry

Canonical Allele Identifier: PA645480469

Gene: HMCN1 HGNC NCBI

ClinVar Allele:

278869

ClinVar RCV:

RCV000363550

RCV001859763

RCV004021392

ClinVar Variation:

294199

HGVS (amino-acid)	Matching Registered Transcripts
NP_114141.2:p.Gly2830Glu	CA1293145 NM_031935.3:c.8489G>A