Canonical Allele Identifier: PA2573101931
Gene: USH2A HGNC NCBI

Linked Data

ClinVar Variation Id: 197509
ClinVar RCV Id: RCV000178559 RCV001375436 RCV003454463 RCV003454462
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_996816.3:p.Phe2910Leu
CA245700
NM_206933.4:c.8730T>A
CA344851430
NM_206933.4:c.8730T>G
CA344851435
NM_206933.4:c.8728T>C