ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244624
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000724784
RCV000816099
RCV002517720
ClinVar Variation:
196858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala2586Thr
CA244622
NM_201379.3:c.7756G>A