ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573101695
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195788
ClinVar RCV Id:
RCV000176439
RCV001000728
RCV001273051
RCV004537398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Gly1599Asp
CA242379
NM_206933.4:c.4796G>A