This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Pro21Leu
CA410602523
NM_001320298.2:c.62C>T
CA2579806591
NM_001320298.2:c.62_63delinsTC
CA2579806594
NM_001320298.2:c.61_63delinsTTG
CA2579806595
NM_001320298.2:c.62_63delinsTT
CA2579806596
NM_001320298.2:c.62_63delinsTG