ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579797050
Gene: CBS
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.0064079865
Score
0.0175
Score
0.0469353254
Score
0.0377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000062.1:p.Thr236Trp
CA2579804218
NM_000071.3:c.706_708delinsTGG