Canonical Allele Identifier: PA1139763732
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 48576
ClinVar RCV Id: RCV000041902 RCV000490376 RCV000671627 RCV000924303
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Asn2356Lys
CA143585
NM_206933.4:c.7068T>G
CA344852029
NM_206933.4:c.7068T>A