ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830502565
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
514223
ClinVar RCV Id:
RCV001054285
RCV001697928
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ala3395Val
CA4924731
NM_201383.3:c.10184C>T