ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139764859
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
944794
ClinVar RCV Id:
RCV001215276
RCV001836158
RCV003449681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Glu4196Lys
CA344850530
NM_206933.4:c.12586G>A