ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830494422
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500806
ClinVar RCV Id:
RCV000595493
RCV000817784
RCV004024797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Ser4504Leu
CA4923747
NM_201381.3:c.13511C>T