Allele Registry

Canonical Allele Identifier: PA198567

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.6968

Score 0.6869856926

Score 0.9508869733

Score 0.5976

Score 0.9196

Score 0.8845

Score 0.4435

Score 0.8263

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000167589

RCV003462246

ClinVar Variation:

187869

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.Arg68Gly	CA198565 NM_005957.5:c.202C>G