ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916064248
Gene: PLP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219649
ClinVar RCV Id:
RCV000203805
RCV002517370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955772.1:p.Met1Thr