ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830496587
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471631
ClinVar RCV Id:
RCV000536622
RCV000593069
RCV002530083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Arg2139His
CA4926003
NM_201382.4:c.6416G>A