Canonical Allele Identifier: PA1139763630
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 166480
ClinVar RCV Id: RCV000152601 RCV000834972 RCV001826814 RCV002498717 RCV003453128 RCV003888578
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro2210Ala
CA179544
NM_206933.4:c.6628C>G