ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580425211
Gene: JPH3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065706.2:p.Ala184Val
CA8220749
NM_020655.4:c.551C>T