ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825175387
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471668
ClinVar RCV Id:
RCV000538074
RCV003133347
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg3005Cys
CA4925135
NM_000445.4:c.9013C>T