Canonical Allele Identifier: PA274180
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188955
ClinVar RCV Id: RCV000169329 RCV001208506 RCV001781526 RCV001248877
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Arg602His
CA274179
NM_000543.5:c.1805G>A