ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830490885
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448062
ClinVar RCV Id:
RCV000876023
RCV000517992
RCV001722437
RCV004541613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Glu1231Lys
CA4926928
NM_201381.3:c.3691G>A