ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA182722
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
178643
ClinVar RCV Id:
RCV000155398
RCV000889692
RCV001106340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005700.2:p.Glu316Gln
CA182721
NM_005709.4:c.946G>C