Allele Registry

Canonical Allele Identifier: PA239870

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 1.0378809152

Score 0.9726

Score 0.9586

Score 0.8014

Score 0.8386

Score 0.902

Score 1.0354081973

Score 0.9445

Linked Data - NCBI & NCI

ClinVar Allele:

191234

ClinVar RCV:

RCV000174348

RCV000433699

RCV001516074

RCV003965255

ClinVar Variation:

194071

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.Arg594Gln	CA239868 NM_005957.5:c.1781G>A