ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028028
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502096
ClinVar RCV Id:
RCV000596599
RCV000795662
RCV003314624
RCV003459473
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Arg429Cys
CA595436
NM_001330358.2:c.1285C>T