ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916020228
Gene: PLP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235599
ClinVar RCV Id:
RCV000223963
RCV001854777
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291933.1:p.His75Tyr
CA10581371
NM_001305004.1:c.223C>T