Allele Registry

Canonical Allele Identifier: PA2579904059

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.9033

Score 0.9774

Score 0.9512

Score 0.9783

Score 0.9643

Score 0.9374

Score 1.0504132819

Score 0.9214434586

Linked Data - NCBI & NCI

ClinVar RCV:

RCV004690763

ClinVar Variation:

3336183

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.Trp421Leu	CA595406 NM_005957.5:c.1262G>T