Canonical Allele Identifier: PA1139763087
Gene: USH2A HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Leu1572Phe
CA143497
NM_206933.4:c.4714C>T
CA658832925
NM_206933.4:c.[4714C>T;2299del]