ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA142378
Gene: USH1C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005700.2:p.Val130Ile
CA142377
NM_005709.4:c.388G>A