ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830508223
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
860934
ClinVar RCV Id:
RCV001067337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Gly4482Val
CA372474415
NM_201384.3:c.13445G>T