ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830477540
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001366050
RCV001712678
RCV002528675
ClinVar Variation:
515703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg1783Cys
CA4926376
NM_201378.4:c.5347C>T