Canonical Allele Identifier: PA2825288663
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_001007594.2:p.Pro476Leu
CA274348
NM_001007593.3:c.1427C>T