ClinGen Allele Registry
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Canonical Allele Identifier:
PA916020232
Gene: PLP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000011833
ClinVar Variation:
11084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001291933.1:p.His85Tyr
CA255699
NM_001305004.1:c.253C>T