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: PA2826119749

Gene: THPO HGNC NCBI

Linked Data

ClinVar Variation Id: 372983

ClinVar RCV Id: RCV000414736

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171068.1:p.Asp83Asn	CA16042502 NM_001177597.2:c.247G>A