ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573315811
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1359158
ClinVar RCV Id:
RCV001872192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Pro1178Thr
CA37504813
NM_206933.4:c.3532C>A