ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA243974
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196748
ClinVar RCV Id:
RCV000545545
RCV000724193
RCV003987424
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Arg1812Gln
CA243966
NM_201380.4:c.5435G>A