ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA255685
Gene: PLP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955772.1:p.Val184Phe
CA255684
NM_199478.3:c.550G>T