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: PA2825791469

Gene: TCOF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2047883

ClinVar RCV Id: RCV002918378

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001128716.1:p.Ser1182Pro	CA3511572 NM_001135244.2:c.3544T>C