ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139764803
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
228304
ClinVar RCV:
RCV000213372
RCV000504751
RCV001074362
RCV001241460
RCV001810438
RCV003462402
RCV004529374
ClinVar Variation:
229616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Ala4049Thr
CA1393526
NM_206933.4:c.12145G>A