ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830501803
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000556369
RCV000727773
RCV002526039
ClinVar Variation:
426994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Glu2685Lys
CA4925442
NM_201383.3:c.8053G>A