ClinGen Allele Registry
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Canonical Allele Identifier:
PA2742037354
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003554895
ClinVar Variation:
2734087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Asn2413Ser
CA1394910
NM_206933.4:c.7238A>G