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: PA2825881344

Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 198187

ClinVar RCV Id: RCV000179456 RCV001852232

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001138575.1:p.Arg224Cys	CA020119 NM_001145103.2:c.670C>T