Allele Registry

Canonical Allele Identifier: PA252518

Gene: SMPD1 HGNC NCBI

ClinVar RCV:

RCV000003121

RCV000723418

RCV001248871

RCV001851601

RCV002468958

RCV003472960

ClinVar Variation:

2987

HGVS (amino-acid)	Matching Registered Transcripts
NP_000534.3:p.Gly244Arg	CA252517 NM_000543.5:c.730G>A CA379370889 NM_000543.5:c.730G>C