ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830502346
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000595300
RCV000703595
RCV004024699
ClinVar Variation:
497042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Gly3197Cys
CA4924925
NM_201383.3:c.9589G>T