ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830487814
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000512847
RCV000648517
RCV002524973
ClinVar Variation:
444763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg4307Cys
CA4923934
NM_201379.3:c.12919C>T