Canonical Allele Identifier: PA645503860
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 256590
ClinVar RCV Id: RCV000252024 RCV000398424 RCV000954959 RCV001729484 RCV001828137 RCV003891855
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Val36_Leu37del
CA5852475
NM_000543.5:c.107_112del
CA2574738544
NM_000543.5:c.102_107del