ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680656
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
477961
ClinVar RCV Id:
RCV000526597
RCV001544564
RCV000769586
RCV003403345
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Ser2170Asn
CA5339884
NM_017617.5:c.6509G>A