ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658819818
Gene: JPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520523
ClinVar RCV Id:
RCV000623971
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065166.2:p.Asp252Asn
CA9868821
NM_020433.5:c.754G>A