ClinGen Allele Registry
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Canonical Allele Identifier:
PA255712
Gene: PLP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
26131
ClinVar RCV:
RCV000011841
RCV001786328
ClinVar Variation:
11092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122306.1:p.Ser170Phe
CA255710
NM_001128834.3:c.509C>T