Allele Registry

Canonical Allele Identifier: PA645480467

Gene: HMCN1 HGNC NCBI

ClinVar RCV:

RCV000401127

RCV001859762

RCV004021391

ClinVar Variation:

294197

HGVS (amino-acid)	Matching Registered Transcripts
NP_114141.2:p.Arg2782Ser	CA1293097 NM_031935.3:c.8346G>C CA343912172 NM_031935.3:c.8346G>T