ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA243892
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196736
ClinVar RCV Id:
RCV000415901
RCV001088471
RCV001199099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg1386His
CA243885
NM_000445.4:c.4157G>A