ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028059
Gene: MTHFR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000167624
ClinVar Variation:
187904
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Ser644Cys
CA198658
NM_001330358.2:c.1931C>G