ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106524
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.0363
Score
0.0491
Score
0.4922
Score
0.1136
Score
0.1147
Score
0.3167915125
Score
0
Score
0.0261
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002225067
ClinVar Variation:
3522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Asn324Ser
CA278055
NM_005957.5:c.971A>G