ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830497065
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000424970
RCV001062533
ClinVar Variation:
385968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Arg2547Trp
CA4925558
NM_201382.4:c.7639C>T