ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825206024
Gene: SMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000534.3:p.Leu382Phe
CA217301669
NM_000543.5:c.1144C>T