ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916027995
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499744
ClinVar RCV Id:
RCV000595772
RCV001082026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Asp264Asn
CA595582
NM_001330358.2:c.790G>A