Canonical Allele Identifier: PA916027994
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 3520
ClinVar RCV Id: RCV000003697 RCV000144921 RCV000153516 RCV000259890 RCV000427078 RCV000428048 RCV000761447 RCV001030751 RCV001847567 RCV002227012
ClinVar Variation Id: 2194685
ClinVar RCV Id: RCV002647482
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317287.1:p.Ala263Val
CA170990
NM_001330358.2:c.788C>T
CA2580060904
NM_001330358.2:c.788_789delinsTT