Allele Registry

Canonical Allele Identifier: PA645480313

Gene: HMCN1 HGNC NCBI

ClinVar Allele:

278996

ClinVar RCV:

RCV000279876

RCV000972209

ClinVar Variation:

294133

HGVS (amino-acid)	Matching Registered Transcripts
NP_114141.2:p.Val1184Phe	CA1291763 NM_031935.3:c.3550G>T