ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826132866
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188927
ClinVar RCV Id:
RCV000169294
RCV000197988
RCV000790997
RCV000780084
RCV002228778
RCV003128393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171479.1:p.Thr257Met
CA274140
NM_001178008.3:c.770C>T