Canonical Allele Identifier: PA2573316620
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1415300
ClinVar RCV Id: RCV001933015
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Met4091Leu
CA1393513
NM_206933.4:c.12271A>T
CA344815831
NM_206933.4:c.12271A>C