ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916064279
Gene: PLP1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_955772.1:p.Asp57Tyr
NM_199478.3:c.169G>T