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: PA1139706860

Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 963471

ClinVar RCV Id: RCV001237501

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005350.1:p.Thr7Arg	CA402457247 NM_005359.6:c.20C>G