ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830499807
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2947957
ClinVar RCV Id:
RCV003806779
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg927Leu
CA372572505
NM_201383.3:c.2780G>T