Canonical Allele Identifier: PA252518
Gene: SMPD1 HGNC NCBI
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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