ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580344131
Gene: MTHFS
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002890631
ClinVar Variation:
2038284
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006432.1:p.Thr202Ala
CA7690251
NM_006441.4:c.604A>G