ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916064275
Gene: PLP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405941
ClinVar RCV Id:
RCV000463096
RCV000681649
RCV003313955
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955772.1:p.Ile47Thr
CA16616406
NM_199478.3:c.140T>C