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: PA2741940684

Gene: FOXP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2981576

ClinVar RCV Id: RCV003840158

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_054728.2:p.Leu246Arg	CA412951033 NM_014009.4:c.737T>G CA2740092151 NM_014009.4:c.736_737delinsAG