ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103754
Gene: PLP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11081
ClinVar RCV Id:
RCV000011830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000524.3:p.Asp203His
CA255693
NM_000533.5:c.607G>C