ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830483658
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424230
ClinVar RCV Id:
RCV000485767
RCV000798873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala1204Thr
CA4926989
NM_201379.3:c.3610G>A