ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101092
Gene: NOTCH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000144233
ClinVar Variation:
156212
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060087.3:p.Asp1989Asn
CA345931
NM_017617.5:c.5965G>A