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: PA2828331862

Gene: FAM111A HGNC NCBI

Linked Data

ClinVar Variation Id: 56810

ClinVar RCV Id: RCV000050209 RCV000419087 RCV000988563 RCV001249420 RCV001267015

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356386.1:p.Arg569His	CA344770 NM_001369457.1:c.1706G>A