ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830484692
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471608
ClinVar RCV Id:
RCV000546115
RCV001561642
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala1814Val
CA4926342
NM_201379.3:c.5441C>T