ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198564
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.2341440205
Score
0.6584790653
Score
0.7156
Score
0.2926
Score
0.6736
Score
0.7619
Score
0.4324
Score
0.4528
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167588
ClinVar Variation:
187868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Trp59Ser
CA198562
NM_005957.5:c.176G>C