ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825176282
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000728532
RCV001088642
RCV002529028
RCV004543278
ClinVar Variation:
487328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg3853Cys
CA4924344
NM_000445.4:c.11557C>T