ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830466545
Gene: PLP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955772.1:p.Leu189Phe
CA414104367
NM_199478.3:c.565C>T