ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826133671
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193971
ClinVar RCV Id:
RCV000474043
RCV000420634
RCV002415740
RCV002517673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171480.1:p.Val358Met
CA239721
NM_001178009.3:c.1072G>A