Allele Registry

Canonical Allele Identifier: PA645434321

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.8346

Score 0.4135

Score 0.4705

Score 1.0937241885

Score 0.8317

Score 1.1256264404

Score 0.896

Score 0.5741

Linked Data - NCBI & NCI

ClinVar RCV:

RCV001894913

RCV002468946

RCV002506924

ClinVar Variation:

1369489

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.Ile225Val	CA595581 NM_005957.5:c.673A>G