Canonical Allele Identifier: PA2573101973
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 438012
ClinVar RCV Id: RCV000505059 RCV001379273 RCV003470635
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Pro4444Leu
CA1393316
NM_206933.4:c.13331C>T