ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830501458
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497040
ClinVar RCV Id:
RCV000594258
RCV000688855
RCV000725806
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ala2358Val
CA4925770
NM_201383.3:c.7073C>T