ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579899720
Gene: MTHFR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.7761
Score
1.5724546866
Score
0.229
Score
0.216
Score
0.7236
Score
1.150412607
Score
0.7726
Score
0.4304
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005948.3:p.Pro202Ala
CA338481067
NM_005957.5:c.604C>G