ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028024
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
641123
ClinVar RCV Id:
RCV000794290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Ser414Cys
CA338479451
NM_001330358.2:c.1240A>T