ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096594
Gene: CBS
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.2007487966
Score
0.3088082902
Score
0.3624
Score
0.2334
Linked Data - NCBI & NCI
ClinVar Allele:
15162
ClinVar RCV:
RCV000000145
RCV003495103
ClinVar Variation:
123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000062.1:p.Lys384Glu
CA113887
NM_000071.3:c.1150A>G