ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825909889
Gene: MTFR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2343624
ClinVar RCV Id:
RCV004183790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139310.1:p.Arg182Thr
CA4764766
NM_001145838.1:c.545G>C