ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741859621
Gene: SMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305016.1:p.Pro430Ala
CA217301971
NM_001318087.2:c.1288C>G