ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830497958
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000596668
RCV000727512
RCV000810147
RCV003160062
ClinVar Variation:
502558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Ala3393Val
CA4924729
NM_201382.4:c.10178C>T