ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573101586
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521388
ClinVar RCV Id:
RCV000623819
RCV002466549
RCV003451478
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Ala3846Val
CA344834550
NM_206933.4:c.11537C>T