ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244625
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196858
ClinVar RCV Id:
RCV002517720
RCV000816099
RCV000724784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Ala2594Thr
CA244622
NM_201378.4:c.7780G>A