ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830502568
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502558
ClinVar RCV Id:
RCV000596668
RCV000727512
RCV000810147
RCV003160062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ala3397Val
CA4924729
NM_201383.3:c.10190C>T