ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826527799
Gene: JPH3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258534.1:p.Val52Ile
CA8220590
NM_001271605.3:c.154G>A