ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139764576
Gene: USH2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
177745
ClinVar RCV Id:
RCV000154358
RCV000732182
RCV001273696
RCV004019848
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Ser3609Ile
CA180688
NM_206933.4:c.10826G>T