ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827486333
Gene: PLPBP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336275.1:p.Glu67Lys
CA175032757
NM_001349346.2:c.199G>A