Canonical Allele Identifier: PA916022246
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2996
ClinVar RCV Id: RCV000003131 RCV001379382
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Tyr469Ser
CA252530
NM_001318087.2:c.1406A>C