Canonical Allele Identifier: PA143455
Gene: USH2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.2:p.His1041Gln
CA143454
NM_206933.3:c.3123C>A
CA344862740
NM_206933.3:c.3123C>G