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: PA094846

Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 9004

ClinVar RCV Id: RCV000009568

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_004378.1:p.Thr178Met	CA212653 NM_004387.3:c.533C>T