ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741970740
Gene: JPH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003319267
ClinVar Variation:
2505334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065166.2:p.Phe200Val
CA409094063
NM_020433.5:c.598T>G