Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA645386962

Gene: NOTCH3 HGNC NCBI

Linked Data

ClinVar Variation Id: 419978

ClinVar RCV Id: RCV000485488

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000426.2:p.Cys1061Tyr	CA16620807 NM_000435.3:c.3182G>A