ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573102069
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96667
ClinVar RCV Id:
RCV000082831
RCV001723661
RCV003230399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Ser2639Pro
CA224400
NM_206933.4:c.7915T>C