ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3077616489
Gene: PLCE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057425.3:p.Ile1757Val
CA377641868
NM_016341.4:c.5269A>G