Canonical Allele Identifier: PA2573102139
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 143175
ClinVar RCV Id: RCV000132706 RCV000144482 RCV000675147 RCV003888572 RCV002514760 RCV003462051
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Ser4748Phe
CA270145
NM_206933.4:c.14243C>T