Allele Registry

Canonical Allele Identifier: PA116322

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.4378

Score 0.7504

Score 0.8609

Score 0.8697

Score 0.8738

Score 0.7615952937

Score 0.9238859367

Score 0.8363

Linked Data - NCBI & NCI

ClinVar Allele:

18560

ClinVar RCV:

RCV000003698

RCV000003699

RCV000144922

RCV000153515

RCV000350590

RCV000430863

RCV001197542

RCV003974792

ClinVar Variation:

3521

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.Glu429Ala	CA116320 NM_005957.5:c.1286A>C