ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579899718
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
1.342999958
Score
0.7834
Score
1.1832680332
Score
0.8058
Score
0.9304
Score
0.8129
Score
0.9271
Score
0.8567
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005236891
ClinVar Variation:
3768039
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Pro202Ser
CA338481066
NM_005957.5:c.604C>T