Canonical Allele Identifier: PA2579796945
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.His232Ser
CA2579808752
NM_000071.3:c.694_695delinsAG
CA2579813677
NM_000071.3:c.694_696delinsAGT