ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104106
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_000524.3:p.Ser170Phe
CA255710
NM_000533.5:c.509C>T