ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830503637
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
648566
ClinVar RCV Id:
RCV000803317
RCV001592993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Gly4516Ser
CA4923762
NM_201383.3:c.13546G>A