ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826846867
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1421433
ClinVar RCV Id:
RCV001923771
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284693.1:p.Ala448Ser
CA5904222
NM_001297764.2:c.1342G>T