ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830478484
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_958780.1:p.Leu2143Val
CA4925977
NM_201378.4:c.6427C>G