ClinGen Allele Registry
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Canonical Allele Identifier:
PA916053984
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
659754
ClinVar RCV Id:
RCV000816806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Gly2051Ala
CA375633824
NM_017617.5:c.6152G>C