ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028012
Gene: MTHFR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
185777
ClinVar RCV:
RCV000167606
RCV003468814
RCV004526623
ClinVar Variation:
187886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Arg376His
CA198614
NM_001330358.2:c.1127G>A