ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645458311
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000534113
RCV000725142
RCV002288959
ClinVar Variation:
282780
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Glu1588Lys
CA4926691
NM_201380.4:c.4762G>A