ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830466481
Gene: PLP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955772.1:p.Thr148Asn
CA414103876
NM_199478.3:c.443C>A