ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA276161
Gene: PLP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000191119
RCV001857679
ClinVar Variation:
209183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122306.1:p.Met1Val