ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573102124
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438011
ClinVar RCV Id:
RCV000504678
RCV000733677
RCV001358731
RCV003470634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Thr4425Met
CA1393320
NM_206933.4:c.13274C>T