ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579797049
Gene: CBS
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.1602
Score
0.355838302
Score
0.1001504679
Score
0.6347
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000062.1:p.Thr236His
CA2579804229
NM_000071.3:c.706_708delinsCAT