ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830504357
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000597334
RCV001088460
RCV004543310
ClinVar Variation:
497072
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Gly846Ser
CA4927486
NM_201384.3:c.2536G>A