ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573316441
Gene: PLP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002009750
RCV003136402
ClinVar Variation:
1479235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955772.1:p.Cys33Phe
CA414102051
NM_199478.3:c.98G>T