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: PA2829411265

Gene: SMARCB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1000534

ClinVar RCV Id: RCV001296679

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003064.2:p.Leu378Phe	CA410914622 NM_003073.5:c.1132C>T