Canonical Allele Identifier: PA252518
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2987
ClinVar RCV Id: RCV000003121 RCV000723418 RCV001248871 RCV001851601 RCV002468958 RCV003472960
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Gly244Arg
CA252517
NM_000543.5:c.730G>A
CA379370889
NM_000543.5:c.730G>C