ClinGen Allele Registry
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Canonical Allele Identifier:
PA3065951830
Gene: USH2A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996816.3:p.Ile4837Thr
CA344833417
NM_206933.4:c.14510T>C