ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830501594
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
386124
ClinVar RCV Id:
RCV000648568
RCV001704300
RCV002521774
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Gln2485Glu
CA4925615
NM_201383.3:c.7453C>G