ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829688317
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
431606
ClinVar RCV:
RCV000504656
RCV000665487
RCV000804683
RCV000824796
RCV001075415
RCV001834622
RCV001836644
ClinVar Variation:
438002
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Thr352Ile
CA1396612
NM_007123.6:c.1055C>T