ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829688293
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000041668
RCV000411779
RCV000710349
RCV000727128
RCV000824797
RCV001074772
RCV001723627
ClinVar Variation:
48347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Asn346His
CA262054
NM_007123.6:c.1036A>C