ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139762097
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000504656
RCV000665487
RCV000804683
RCV000824796
RCV001075415
RCV001834622
RCV001836644
ClinVar Variation:
438002
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Thr352Ile
CA1396612
NM_206933.4:c.1055C>T