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: PA2573243662

Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1349963

ClinVar RCV Id: RCV002039400

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005350.1:p.Ala418Val	CA402464965 NM_005359.6:c.1253C>T