Allele Registry

Canonical Allele Identifier: PA658812586

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.2214

Score 0.865706998

Score 0.9078

Score 0.0641

Score 0.2072

Score 0.6383338122

Score 0.7895

Score 0.8607

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000595772

RCV001082026

ClinVar Variation:

499744

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.Asp223Asn	CA595582 NM_005957.5:c.667G>A