ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028032
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000003698
RCV000003699
RCV000144922
RCV000153515
RCV000350590
RCV000430863
RCV001197542
RCV003974792
ClinVar Variation:
3521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Glu470Ala
CA116320
NM_001330358.2:c.1409A>C