ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826749220
Gene: PLCE1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002716622
ClinVar Variation:
1966504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275918.1:p.Ala1749Thr
CA5613330
NM_001288989.2:c.5245G>A