ClinGen Allele Registry
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Canonical Allele Identifier:
PA645491344
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426315
ClinVar RCV Id:
RCV000489510
RCV003748233
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Ala2044Val
CA375633945
NM_017617.5:c.6131C>T