ClinGen Allele Registry
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Canonical Allele Identifier:
PA916053968
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
644363
ClinVar RCV Id:
RCV000798259
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Thr1996Met
CA5340067
NM_017617.5:c.5987C>T