ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579797026
Gene: CBS
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.3054020324
Score
0.7086543217
Score
0.539
Score
0.5276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000062.1:p.Thr235Met
CA2579804290
NM_000071.3:c.704_705delinsTG