ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139764137
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166464
ClinVar RCV Id:
RCV000152585
RCV000673073
RCV001244965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Ile3103Val
CA179526
NM_206933.4:c.9307A>G