ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830481729
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
438403
ClinVar RCV:
RCV000512847
RCV000648517
RCV002524973
ClinVar Variation:
444763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg4315Cys
CA4923934
NM_201378.4:c.12943C>T