ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579797040
Gene: CBS
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.1101
Score
0.1509
Score
0.2358709217
Score
0.3141623489
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000062.1:p.Thr236Gly
CA2579804228
NM_000071.3:c.706_708delinsGGG