Canonical Allele Identifier: PA104005
Gene: PLP1 HGNC NCBI
ClinVar RCV:
RCV000011838
ClinVar Variation:
11089
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000524.3:p.Phe237Ser
CA255707
NM_000533.5:c.710T>C