ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139764922
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000215653
RCV000726657
RCV001272948
ClinVar Variation:
229619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Ser4275Thr
CA1393401
NM_206933.4:c.12823T>A