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: PA2825896611

Gene: GATA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2091971

ClinVar RCV Id: RCV003015872

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001139133.1:p.Asn114Lys	CA354407230 NM_001145661.2:c.342C>G CA354407231 NM_001145661.2:c.342C>A