Canonical Allele Identifier: PA1139763794
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48581
ClinVar RCV Id: RCV000041907 RCV000504969 RCV000667058 RCV000923961 RCV001171531 RCV003224127 RCV001271984
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ser2445Phe
CA143592
NM_206933.4:c.7334C>T