Canonical Allele Identifier: PA2825288785
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2581711
ClinVar RCV Id: RCV003330487

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Phe571Leu
CA379376861
NM_001007593.3:c.1711T>C
CA379376870
NM_001007593.3:c.1713C>A
CA379376871
NM_001007593.3:c.1713C>G