Canonical Allele Identifier: PA1139696720
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 848483
ClinVar RCV Id: RCV001052251
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317287.1:p.Gly190Val
CA338422206
NM_001330358.2:c.569G>T
CA916081998
NM_001330358.2:c.569_570delinsTT