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: PA340354

Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 5180

ClinVar RCV Id: RCV000005488 RCV000412981 RCV000584141 RCV001266579 RCV002504750 RCV003335014

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000104.1:p.Glu303del	CA340352 NM_000113.3:c.907_909del CA375197646 NM_000113.3:c.907G>T CA375197653 NM_000113.3:c.904G>T