ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580403536
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2421012
ClinVar RCV Id:
RCV003112672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Gln462Arg
CA375563002
NM_017617.5:c.1385A>G