ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580199025
Gene: SMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305016.1:p.Ile444Asn
CA379374565
NM_001318087.2:c.1331T>A