ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573101715
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236543
ClinVar RCV Id:
RCV000225627
RCV000281204
RCV000504766
RCV000669603
RCV001833242
RCV003469119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Cys2040Gly
CA10581641
NM_206933.4:c.6118T>G