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: PA645386045

Gene: PITX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 287966

ClinVar RCV Id: RCV000306490 RCV004021236

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_002644.4:p.Ala84Asp	CA3417653 NM_002653.5:c.251C>A