Canonical Allele Identifier: PA2741872227
Gene: SMPD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001352064.1:p.Trp211Cys
CA379370454
NM_001365135.1:c.633G>C
CA379370456
NM_001365135.1:c.633G>T