ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573272127
Gene: HELLS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1586082
ClinVar RCV Id:
RCV002098009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060533.2:p.Arg53Cys
CA5615186
NM_018063.5:c.157C>T