ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579797045
Gene: CBS
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.1221
Score
0.0242467463
Score
0.1204
Score
0.1661185853
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000062.1:p.Thr236Glu
CA2579804230
NM_000071.3:c.706_708delinsGAG