ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827486934
Gene: PLPBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2897496
ClinVar RCV Id:
RCV003733513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336277.1:p.Met1Ile