Allele Registry

Canonical Allele Identifier: PA2825288321

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000596004

RCV001037515

ClinVar Variation:

502573

HGVS (amino-acid)	Matching Registered Transcripts
NP_001007594.2:p.Pro183Leu	CA5852623 NM_001007593.3:c.548C>T