ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825172815
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000648457
RCV001288678
RCV002530502
ClinVar Variation:
538916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg614Gln
CA4927862
NM_000445.4:c.1841G>A