ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741960848
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2832860
ClinVar RCV Id:
RCV003749962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Pro2122Arg
CA375631898
NM_017617.5:c.6365C>G