ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830478952
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000340103
RCV001045422
RCV002518874
ClinVar Variation:
283244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Thr2347Met
CA4925765
NM_201378.4:c.7040C>T