ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA181268
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000154727
RCV000171961
RCV000467285
RCV002372009
ClinVar Variation:
178042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Asn309Ser
CA181264
NM_021991.4:c.926A>G