Canonical Allele Identifier: PA2825288698
Gene: SMPD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Tyr499His
CA5852922
NM_001007593.3:c.1495T>C
CA217302571
NM_001007593.3:c.1494_1495delinsAC