ClinGen Allele Registry
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Canonical Allele Identifier:
PA239870
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_005948.3:p.Arg594Gln
CA239868
NM_005957.5:c.1781G>A