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: PA2827510778

Gene: CSF1R HGNC NCBI

Linked Data

ClinVar Variation Id: 904114

ClinVar RCV Id: RCV001151837 RCV001858996 RCV003953537

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336665.1:p.Ala299Thr	CA3506992 NM_001349736.2:c.895G>A