ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826846916
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178563
ClinVar RCV Id:
RCV000155311
RCV000425626
RCV001103299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284693.1:p.Ala485Thr
CA182565
NM_001297764.2:c.1453G>A