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: PA2741879993

Gene: TOMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2683157

ClinVar RCV Id: RCV003482024 RCV004364844

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001380429.1:p.Arg75His	CA224374581 NM_001393500.2:c.224G>A