ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658812586
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499744
ClinVar RCV Id:
RCV000595772
RCV001082026
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Asp223Asn
CA595582
NM_005957.5:c.667G>A