ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA220938
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93069
ClinVar RCV Id:
RCV000078884
RCV000554019
RCV002514388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Ala1945Val
CA220937
NM_201381.3:c.5834C>T