ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830501880
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000518817
RCV000648520
RCV000730507
RCV002252149
ClinVar Variation:
448078
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg2776His
CA4925363
NM_201383.3:c.8327G>A