Canonical Allele Identifier: PA916045133
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371576
ClinVar RCV Id: RCV000409846 RCV000780730 RCV001248930 RCV001250174
ClinVar Variation Id: 553926
ClinVar RCV Id: RCV000669468
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Ser250Arg
CA5852678
NM_001365135.1:c.748A>C
CA379370932
NM_001365135.1:c.750C>A
CA379370933
NM_001365135.1:c.750C>G