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: PA916073845

Gene: FTCD HGNC NCBI

Linked Data

ClinVar Variation Id: 666112

ClinVar RCV Id: RCV000824536 RCV002536028

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_996848.1:p.Ala455Val	CA10073468 NM_206965.2:c.1364C>T