ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139762642
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
842442
ClinVar RCV Id:
RCV001044868
RCV001827277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Thr907Ile
CA37501070
NM_206933.4:c.2720C>T