ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827486332
Gene: PLPBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1934485
ClinVar RCV Id:
RCV002638735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336275.1:p.Phe65Ser
CA370666759
NM_001349346.2:c.194T>C