ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830487043
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
457902
ClinVar RCV:
RCV000560530
RCV000594196
RCV002527964
ClinVar Variation:
478584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg3478His
CA4924629
NM_201379.3:c.10433G>A