Canonical Allele Identifier: PA255700
Gene: PLP1 HGNC NCBI
ClinVar RCV:
RCV000011833
ClinVar Variation:
11084
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001122306.1:p.His140Tyr
CA255699
NM_001128834.3:c.418C>T