ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830493354
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
514186
ClinVar RCV Id:
RCV000605096
RCV000806651
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Ala3397Val
CA4924701
NM_201381.3:c.10190C>T