ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689346
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229624
ClinVar RCV Id:
RCV000215197
RCV000674556
RCV001835733
RCV002518227
RCV003454605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Asn827His
CA10576387
NM_007123.6:c.2479A>C