ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645491420
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376346
ClinVar RCV Id:
RCV000420862
RCV002374625
RCV000701504
RCV001198791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Arg2327Trp
CA5339772
NM_017617.5:c.6979C>T