ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689883
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000119824
RCV000675179
RCV000787729
RCV001089677
RCV001231408
ClinVar Variation:
133312
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Ser1136Asn
CA269917
NM_007123.6:c.3407G>A