ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916027992
Gene: MTHFR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000416935
ClinVar Variation:
222894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317287.1:p.Pro243Thr
CA16044132
NM_001330358.2:c.727C>A