Canonical Allele Identifier: PA2579796883
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro229Ser
CA410600611
NM_000071.3:c.685C>T
CA2579806575
NM_000071.3:c.685_687delinsTCT
CA2579806576
NM_000071.3:c.685_687delinsTCA