ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA121358
Gene: PLP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000011840
ClinVar Variation:
11091
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122306.1:p.Ala242Val
CA121357
NM_001128834.3:c.725C>T