Canonical Allele Identifier: PA3088325512
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Val168Leu
CA410601371
NM_001178008.3:c.502G>T
CA410601372
NM_001178008.3:c.502G>C
CA2579803311
NM_001178008.3:c.502_504delinsTTA
CA2579803312
NM_001178008.3:c.502_504delinsCTT