Canonical Allele Identifier: PA916022249
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 189075
ClinVar RCV Id: RCV000169478 RCV000521803 RCV000802459 RCV001249039
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Pro477Leu
CA274348
NM_001318087.2:c.1430C>T