ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825188414
Gene: PLP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000524.3:p.Thr116Met
CA10478955
NM_000533.5:c.347C>T