ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826978576
Gene: SMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305016.1:p.Val117Met
CA5852586
NM_001318087.2:c.349G>A