ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573092887
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001767334
RCV002386522
RCV003748354
ClinVar Variation:
1306381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Val2476Met
CA201632444
NM_017617.5:c.7426G>A