Allele Registry

Canonical Allele Identifier: PA198576

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.6450863683

Score 0.2127

Score 0.5886

Score 0.4176961726

Score 0.6482

Score 0.6069

Score 0.4604

Score 0.6494

Linked Data - NCBI & NCI

ClinVar Allele:

185791

ClinVar RCV:

RCV000167592

RCV003462247

ClinVar Variation:

187872

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.Ala113Thr	CA198574 NM_005957.5:c.337G>A