ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198619
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187887
ClinVar RCV Id:
RCV000167607
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Pro348Ser
CA198617
NM_005957.5:c.1042C>T