ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827487322
Gene: PLPBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2159457
ClinVar RCV Id:
RCV003152811
RCV003093787
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336278.1:p.Glu102Lys
CA175032757
NM_001349349.1:c.304G>A