ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830497509
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000598514
RCV000812370
ClinVar Variation:
497045
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Arg2994His
CA4925119
NM_201382.4:c.8981G>A