Allele Registry

Canonical Allele Identifier: PA916061448

Gene: HMCN1 HGNC NCBI

ClinVar RCV:

RCV000963078

RCV001096861

ClinVar Variation:

781796

HGVS (amino-acid)	Matching Registered Transcripts
NP_114141.2:p.Gln5462Arg	CA1295535 NM_031935.3:c.16385A>G