Canonical Allele Identifier: PA2825206070
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1501508
ClinVar RCV Id: RCV002017523
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Pro430Ser
CA217301969
NM_000543.5:c.1288C>T