ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573266066
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1464897
ClinVar RCV Id:
RCV001979237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Arg1586Cys
CA375645172
NM_017617.5:c.4756C>T