ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830493211
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423958
ClinVar RCV Id:
RCV000551666
RCV001696894
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Val3249Met
CA4924832
NM_201381.3:c.9745G>A