Canonical Allele Identifier: PA2573316839
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Asn4762Lys
CA1393072
NM_206933.4:c.14286C>A
CA344835156
NM_206933.4:c.14286C>G