ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA239277
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193686
ClinVar RCV Id:
RCV000173820
RCV000763727
RCV001081882
RCV003947466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Arg519Leu
CA239275
NM_005957.5:c.1556G>T