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: PA113451

Gene: AMT HGNC NCBI

Linked Data

ClinVar Variation Id: 11978

ClinVar RCV Id: RCV000012758 RCV003230356

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000472.2:p.Asp276His	CA256150 NM_000481.4:c.826G>C