Allele Registry

Canonical Allele Identifier: PA198663

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.9502

Score 1.4614379953

Score 0.856

Score 0.9302

Score 1.4538896361

Score 0.9284

Score 0.7626

Score 0.9515

Linked Data - NCBI & NCI

ClinVar Allele:

185758

ClinVar RCV:

RCV000167625

ClinVar Variation:

187905

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.Leu628Pro	CA198661 NM_005957.5:c.1883T>C