ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830484374
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000419056
RCV001861552
ClinVar Variation:
385087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala1638Thr
CA4926478
NM_201379.3:c.4912G>A