Allele Registry

Canonical Allele Identifier: PA106551

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.517

Score 0.4007

Score 0.2316

Score 0.1514

Score 0

Score 0.1144

Score 0.1758410058

Score 0.0932

Linked Data - NCBI & NCI

ClinVar Allele:

18568

ClinVar RCV:

RCV002512718

RCV003466798

ClinVar Variation:

3529

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.Leu323Pro	CA278061 NM_005957.5:c.968T>C