Canonical Allele Identifier: PA3078384615
Gene: SMPD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Met384_Asn385delinsIle
CA597438320
NM_000543.5:c.1152_1154del