ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830466503
Gene: PLP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955772.1:p.Asp168Gly
CA414104099
NM_199478.3:c.503A>G