Allele Registry

Canonical Allele Identifier: PA198649

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.8176

Score 0.8127

Score 0.8653

Score 1.3483831803

Score 0.8899

Score 0.8072

Score 1.1776212392

Score 0.8946

Linked Data - NCBI & NCI

ClinVar Allele:

185764

ClinVar RCV:

RCV000167619

ClinVar Variation:

187899

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.Val575Gly	CA198647 NM_005957.5:c.1724T>G