ClinGen Allele Registry
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Canonical Allele Identifier:
PA3084483504
Gene: USH1G
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775748.2:p.Leu16Phe
CA400968474
NM_173477.5:c.46C>T