ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830494363
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538914
ClinVar RCV Id:
RCV000648455
RCV000838665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Gly4464Ser
CA4923784
NM_201381.3:c.13390G>A