ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104196
Gene: PLP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000524.3:p.Thr43Ile
CA255704
NM_000533.5:c.128C>T