ClinGen Allele Registry
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Canonical Allele Identifier:
PA096044
Gene: CBS
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.4016758781
Score
0.9318
Score
0.9705933761
Score
0.9589
Linked Data - NCBI & NCI
ClinVar Allele:
194786
ClinVar RCV:
RCV000178709
RCV000723426
RCV001804908
RCV002228790
ClinVar Variation:
197625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000062.1:p.Arg125Gln
CA275291
NM_000071.3:c.374G>A