ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826133500
Gene: CBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
370382
ClinVar RCV Id:
RCV000412334
RCV001527049
RCV002230214
RCV003168587
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171480.1:p.Ala226Thr
CA16042003
NM_001178009.3:c.676G>A