Canonical Allele Identifier: PA2825205886
Gene: SMPD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Glu248Gln
CA379370913
NM_000543.5:c.742G>C
CA2695213119
NM_000543.5:c.741_742delinsGC