ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829688274
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000213203
RCV000668930
RCV000822071
RCV001003287
RCV001074876
RCV001273812
RCV003454598
ClinVar Variation:
228411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Arg334Trp
CA1396625
NM_007123.6:c.1000C>T