Allele Registry

Canonical Allele Identifier: PA658655093

Gene: HMCN1 HGNC NCBI

ClinVar RCV:

RCV000512711

RCV003449455

RCV004023455

ClinVar Variation:

444187

HGVS (amino-acid)	Matching Registered Transcripts
NP_114141.2:p.Arg5249His	CA1295363 NM_031935.3:c.15746G>A