ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826846845
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2157092
ClinVar RCV Id:
RCV003077914
RCV003250744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284693.1:p.Met430Thr
CA5904263
NM_001297764.2:c.1289T>C