Allele Registry

Canonical Allele Identifier: PA198588

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.3182390808

Score 0.0276

Score 0.5161

Score 0.2811

Score 0.1422

Score 0.3024797039

Score 0.0575

Score 0.4404

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000167596

RCV000993916

RCV003468813

ClinVar Variation:

187876

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.Arg183Gln	CA198586 NM_005957.5:c.548G>A