ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826133021
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212881
ClinVar RCV Id:
RCV000196320
RCV001853130
RCV000763061
RCV003987440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171479.1:p.Arg379Trp
CA320740
NM_001178008.3:c.1135C>T