ClinGen Allele Registry
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Canonical Allele Identifier:
PA645503930
Gene: SMPD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
214803
ClinVar RCV:
RCV001004367
RCV001384265
ClinVar Variation:
242451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000534.3:p.Tyr448Cys
CA5852881
NM_000543.5:c.1343A>G