ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028029
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187892
ClinVar RCV Id:
RCV000167612
RCV001268212
RCV003462249
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Trp462Ser
CA198630
NM_001330358.2:c.1385G>C