ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573274123
Gene: JPH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065166.2:p.Arg381Leu
CA9868737
NM_020433.5:c.1142G>T