ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA221115
Gene: PLP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93235
ClinVar RCV Id:
RCV000079102
RCV000794114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122306.1:p.Gly246Ala
CA221114
NM_001128834.3:c.737G>C