ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830485126
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000516442
RCV000727425
RCV002060252
RCV003159661
ClinVar Variation:
448076
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala2067Val
CA4926060
NM_201379.3:c.6200C>T