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: PA916051159

Gene: RFT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 738418

ClinVar RCV Id: RCV002065858

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_443091.1:p.Thr89Ile	CA2451506 NM_052859.4:c.266C>T