ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573101645
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418533
ClinVar RCV Id:
RCV000480360
RCV000504759
RCV001074179
RCV003463976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Cys694Tyr
CA1396311
NM_206933.4:c.2081G>A