Allele Registry

Canonical Allele Identifier: PA272343

Gene: NSDHL HGNC NCBI

ClinVar Allele:

170078

ClinVar RCV:

RCV000146964

RCV000412977

ClinVar Variation:

159453

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123237.1:p.Val243Met	CA272342 NM_001129765.2:c.727G>A