ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198558
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.622956507
Score
0.582633834
Score
0.6269
Score
0.5699
Score
0.6737
Score
0.6583
Score
0.6151
Score
0.6024
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167586
ClinVar Variation:
187866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Arg46Trp
CA198556
NM_005957.5:c.136C>T