ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198609
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.0637
Score
0.1575
Score
0.0581
Score
0.0913622928
Score
0.1196
Score
0.0518
Score
0.3617660019
Score
0.0668
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167603
ClinVar Variation:
187883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Ile256Asn
CA198607
NM_005957.5:c.767T>A