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_001171480.1:p.Phe112Ser
CA410601919
NM_001178009.3:c.335T>C
CA2579806241
NM_001178009.3:c.335_336delinsCA
CA2579806242
NM_001178009.3:c.334_336delinsAGT
CA2579806243
NM_001178009.3:c.335_336delinsCG