ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825188296
Gene: PLP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2099569
ClinVar RCV Id:
RCV003021782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000524.3:p.Phe32Ser
CA414102038
NM_000533.5:c.95T>C