ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028056
Gene: MTHFR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000174348
RCV000433699
RCV001516074
RCV003965255
ClinVar Variation:
194071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Arg635Gln
CA239868
NM_001330358.2:c.1904G>A