ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139763833
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
48587
ClinVar RCV Id:
RCV000041913
RCV000668816
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Gln2615Arg
CA143603
NM_206933.4:c.7844A>G