Allele Registry

Canonical Allele Identifier: PA198616

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.0309

Score 0.0056809117

Score 0.0102

Score 0.0534

Score 0.0412

Score 0.1827

Score 0

Score 0.1566

Linked Data - NCBI & NCI

ClinVar Allele:

185777

ClinVar RCV:

RCV000167606

RCV003468814

RCV004526623

ClinVar Variation:

187886

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.Arg335His	CA198614 NM_005957.5:c.1004G>A