Allele Registry

Canonical Allele Identifier: PA106499

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.9481

Score 1.0451748332

Score 0.7263194245

Score 0.8372

Score 0.8219

Score 0.8889

Score 0.8354

Score 0.8717

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000642247

RCV000756357

RCV003460411

ClinVar Variation:

3528

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.Arg377Cys	CA278059 NM_005957.5:c.1129C>T