ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916027986
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222893
ClinVar RCV Id:
RCV000416816
RCV003235132
RCV003468969
RCV002503824
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Thr180Met
CA16044133
NM_001330358.2:c.539C>T