ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826527777
Gene: JPH3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258533.1:p.Val52Ile
CA8220590
NM_001271604.4:c.154G>A