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: PA645474682

Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 230442

ClinVar RCV Id: RCV002229220 RCV003997838 RCV002310804

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005350.1:p.Asn8Ser	CA10580969 NM_005359.6:c.23A>G