ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580405248
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2200072
ClinVar RCV Id:
RCV002625290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Val2024Ile
CA5340047
NM_017617.5:c.6070G>A