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.Ile502Leu
CA410395750
NM_001178009.3:c.1504A>C
CA2579807945
NM_001178009.3:c.1504_1506delinsTTG
CA2579807946
NM_001178009.3:c.1504_1506delinsCTG
CA2579807947
NM_001178009.3:c.1504_1506delinsTTA
CA2579807949
NM_001178009.3:c.1504_1506delinsCTT