ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830481024
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281279
ClinVar RCV Id:
RCV000278084
RCV001086289
RCV000725153
RCV004542977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Glu3828Lys
CA4924328
NM_201378.4:c.11482G>A