ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830466524
Gene: PLP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
189055
ClinVar RCV:
RCV000171442
RCV003984826
ClinVar Variation:
191252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955772.1:p.Gly182Asp
CA236360
NM_199478.3:c.545G>A