ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830491972
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432861
ClinVar RCV Id:
RCV000648566
RCV000727788
RCV002524102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Ala2123Val
CA4925980
NM_201381.3:c.6368C>T