ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573101988
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143176
ClinVar RCV Id:
RCV000132707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Gly4817Glu
CA270147
NM_206933.4:c.14450G>A