ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680562
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
477934
ClinVar RCV Id:
RCV000552023
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Ala1610Val
CA375644795
NM_017617.5:c.4829C>T