Canonical Allele Identifier: PA2826749216
Gene: PLCE1 HGNC NCBI
ClinVar RCV:
RCV003063106
ClinVar Variation:
2144783
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001275918.1:p.Arg1713Gln
CA5613314
NM_001288989.2:c.5138G>A