ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830487959
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448052
ClinVar RCV Id:
RCV000516349
RCV000648526
RCV002525064
RCV003133300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg4468His
CA4923797
NM_201379.3:c.13403G>A