Allele Registry

Canonical Allele Identifier: PA2579904155

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.9221

Score 0.9265

Score 0.7805

Score 0.8694

Score 0.9457

Score 0.8892317503

Score 0.6225

Score 0.8983919553

Linked Data - NCBI & NCI

ClinVar RCV:

RCV005378702

ClinVar Variation:

3875417

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.Thr426Ile	CA595401 NM_005957.5:c.1277C>T