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: PA2825433339

Gene: UBTF HGNC NCBI

Linked Data

ClinVar Variation Id: 437909

ClinVar RCV Id: RCV000504592 RCV000505522 RCV000625527 RCV000845031 RCV001265907 RCV001195293 RCV001566123 RCV001420236

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070152.1:p.Glu210Lys	CA399765298 NM_001076684.3:c.628G>A