Canonical Allele Identifier: PA2579797010
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr235Ser
CA410600541
NM_000071.3:c.704C>G
CA410600544
NM_000071.3:c.703A>T
CA2579804283
NM_000071.3:c.703_705delinsTCG
CA2579804284
NM_000071.3:c.703_705delinsTCA
CA2579804285
NM_000071.3:c.703_705delinsTCT
CA2579804287
NM_000071.3:c.704_705delinsGT