ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827486942
Gene: PLPBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2023257
ClinVar RCV Id:
RCV002857814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336277.1:p.Ile3Met
CA370666696
NM_001349348.2:c.9C>G