Canonical Allele Identifier: PA2573101963
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 440397
ClinVar RCV Id: RCV000505942 RCV001834643
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Met4091Ile
CA1393512
NM_206933.4:c.12273G>A
CA344815819
NM_206933.4:c.12273G>T
CA344815821
NM_206933.4:c.12273G>C