ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830503017
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000278084
RCV000725153
RCV001086289
RCV004542977
ClinVar Variation:
281279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Glu3846Lys
CA4924328
NM_201383.3:c.11536G>A