ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104043
Gene: PLP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11075
ClinVar RCV Id:
RCV000011824
RCV001851798
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000524.3:p.Pro15Leu
CA255678
NM_000533.5:c.44C>T