Canonical Allele Identifier: PA645490662
Gene: PLP1 HGNC NCBI
ClinVar RCV:
RCV000496178
ClinVar Variation:
431078
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001122306.1:p.Lys122Arg
CA414102780
NM_001128834.3:c.365A>G