ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA201495
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000175499
RCV000555489
RCV000999100
ClinVar Variation:
195001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg750His
CA201489
NM_201383.3:c.2249G>A