ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830505859
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
516477
ClinVar RCV Id:
RCV000601790
RCV000819372
RCV003488728
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Leu2157Val
CA4925977
NM_201384.3:c.6469C>G