ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830481970
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000591991
RCV000803446
ClinVar Variation:
498663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Ala4473Thr
CA4923803
NM_201378.4:c.13417G>A