Canonical Allele Identifier: PA252516
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2986
ClinVar RCV Id: RCV000003120 RCV000596113
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Met384Ile
CA252515
NM_000543.5:c.1152G>A
CA379373046
NM_000543.5:c.1152G>C
CA379373050
NM_000543.5:c.1152G>T