ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139764935
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
57571
ClinVar RCV:
RCV000041732
RCV000504620
RCV001075301
RCV001231366
RCV001252674
RCV001810411
RCV003460549
ClinVar Variation:
48409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Asn4292Asp
CA143304
NM_206933.4:c.12874A>G