ClinGen Allele Registry
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Canonical Allele Identifier:
PA916054064
Gene: NOTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
642265
ClinVar RCV Id:
RCV000795696
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Ala2178Thr
CA375631372
NM_017617.5:c.6532G>A