ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830486965
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000605096
RCV000806651
ClinVar Variation:
514186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala3407Val
CA4924701
NM_201379.3:c.10220C>T