Canonical Allele Identifier: PA2825288321
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 502573
ClinVar RCV Id: RCV000596004 RCV001037515
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Pro183Leu
CA5852623
NM_001007593.3:c.548C>T