ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826749297
Gene: PLCE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448044
ClinVar RCV Id:
RCV000517610
RCV002490887
RCV003565432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001275918.1:p.Glu2270del
CA5613674
NM_001288989.2:c.6808_6810del