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: PA916077507

Gene: TBX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 7994

ClinVar RCV Id: RCV000008458

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_852259.1:p.Gly80Arg	CA254300 NM_181486.4:c.238G>A CA386862966 NM_181486.4:c.238G>C