Canonical Allele Identifier: PA252512
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2983
ClinVar RCV Id: RCV000003117
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Ser438Arg
CA252511
NM_000543.5:c.1314C>A
CA379374440
NM_000543.5:c.1312A>C
CA379374454
NM_000543.5:c.1314C>G