ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139765507
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
179824
ClinVar RCV Id:
RCV000156623
RCV000668542
RCV003311698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Arg5194His
CA185216
NM_206933.4:c.15581G>A