Canonical Allele Identifier: PA252532
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2996
ClinVar RCV Id: RCV000003131 RCV001379382
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Tyr469Ser
CA252530
NM_000543.5:c.1406A>C