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: PA207749

Gene: HNF4A HGNC NCBI

Linked Data

ClinVar Variation Id: 36364

ClinVar RCV Id: RCV000030034 RCV000193933 RCV000517103 RCV001249093 RCV004527307

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_787110.2:p.Arg309Cys	CA207744 NM_175914.5:c.925C>T