ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830484989
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471621
ClinVar RCV Id:
RCV000536048
RCV004538042
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg1991Trp
CA4926133
NM_201379.3:c.5971C>T