ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA221111
Gene: PLP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000011822
RCV000079100
ClinVar Variation:
11073
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001122306.1:p.Pro216Ser
CA221109
NM_001128834.3:c.646C>T