ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825188277
Gene: PLP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2018207
ClinVar RCV Id:
RCV002861884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000524.3:p.Pro15Ser
CA414101863
NM_000533.5:c.43C>T