ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573101873
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1311679
ClinVar RCV Id:
RCV001752662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Gly918Val
CA344864108
NM_206933.4:c.2753G>T