ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830498980
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000712724
RCV001088628
RCV004021126
ClinVar Variation:
283254
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Gly4484Ser
CA4923805
NM_201382.4:c.13450G>A