Canonical Allele Identifier: PA2579797010
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000062.1:p.Thr235Ser
NM_000071.3:c.703A>T

NM_000071.3:c.703_705delinsTCA

NM_000071.3:c.703_705delinsTCG

NM_000071.3:c.703_705delinsTCT

NM_000071.3:c.704C>G

NM_000071.3:c.704_705delinsGT