Canonical Allele Identifier: PA2828169469
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_001352064.1:p.Pro433Leu
CA274348
NM_001365135.1:c.1298C>T