Canonical Allele Identifier: PA274349
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 189075
ClinVar RCV Id: RCV000169478 RCV000521803 RCV000802459 RCV001249039
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Pro477Leu
CA274348
NM_000543.5:c.1430C>T