ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA161208
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134940
ClinVar RCV Id:
RCV000121690
RCV000769596
RCV000233898
RCV002269861
RCV002492435
RCV003430679
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Val1671Ile
CA161207
NM_017617.5:c.5011G>A