ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830502824
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000576206
RCV000724841
ClinVar Variation:
281287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Tyr3646Cys
CA4924497
NM_201383.3:c.10937A>G