ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829688059
Gene: USH2A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
57726
ClinVar RCV:
RCV000041890
RCV000408647
RCV000504825
RCV000675152
RCV001075204
RCV001826599
RCV004537156
ClinVar Variation:
48564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009054.6:p.Val218Glu
CA262114
NM_007123.6:c.653T>A