ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028065
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281891
ClinVar RCV Id:
RCV000261696
RCV000534228
RCV000755305
RCV003977735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Thr694Met
CA595143
NM_001330358.2:c.2081C>T