Canonical Allele Identifier: PA2499253347
Gene: SMPD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Asp253Glu
CA379370955
NM_001365135.1:c.759C>A
CA379370956
NM_001365135.1:c.759C>G