Canonical Allele Identifier: PA2573210527
Gene: SMPD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Asp280Glu
CA379371124
NM_001365135.1:c.840C>A
CA379371125
NM_001365135.1:c.840C>G