Allele Registry

Canonical Allele Identifier: PA645434361

Gene: MTHFR HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.4328

Score 0.2564

Score 0.0047104703

Score 0.3075

Score 0.2059239875

Score 0.3584

Score 0.478

Score 0.3708

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000320382

RCV001081108

ClinVar Variation:

286730

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005948.3:p.His263Pro	CA595534 NM_005957.5:c.788A>C