ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198579
Gene: MTHFR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167593
RCV003323422
ClinVar Variation:
187873
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.His127Tyr
CA198577
NM_005957.5:c.379C>T