ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139673967
Gene: SMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000534.3:p.Cys596Arg
CA379377128
NM_000543.5:c.1786T>C