ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830508247
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
644156
ClinVar RCV Id:
RCV000798013
RCV002537069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Arg4498Gln
CA4923781
NM_201384.3:c.13493G>A