ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830501278
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000725397
RCV001227994
RCV002521870
ClinVar Variation:
281264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Lys2206Arg
CA4925932
NM_201383.3:c.6617A>G