ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580530526
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2157092
ClinVar RCV Id:
RCV003077914
RCV003250744
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_710142.1:p.Met749Thr
CA5904263
NM_153676.4:c.2246T>C