Canonical Allele Identifier: PA645503888
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371341
ClinVar RCV Id: RCV000589803 RCV000723417 RCV001004575 RCV001045155 RCV001248932
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Pro186Leu
CA16041479
NM_000543.5:c.557C>T