ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830501885
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450144
ClinVar RCV Id:
RCV000522422
RCV001045987
RCV004023556
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Val2778Ile
CA4925360
NM_201383.3:c.8332G>A