ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827486637
Gene: PLPBP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1027730
ClinVar RCV Id:
RCV001328599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336276.1:p.Ser46Asn
CA4711140
NM_001349347.2:c.137G>A