ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA255711
Gene: PLP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11092
ClinVar RCV Id:
RCV000011841
RCV001786328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955772.1:p.Ser135Phe
CA255710
NM_199478.3:c.404C>T