Canonical Allele Identifier: PA658804862
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496881
ClinVar RCV Id: RCV000597599 RCV003392427
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Leu379Phe
CA5852798
NM_000543.5:c.1135C>T