ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573102040
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
597787
ClinVar RCV Id:
RCV000734013
RCV001075084
RCV001825481
RCV002307609
RCV002535362
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Val1339Gly
CA1395854
NM_206933.4:c.4016T>G