Canonical Allele Identifier: PA2579798400
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Thr300Ser
CA410600046
NM_000071.3:c.899C>G
CA410600049
NM_000071.3:c.898A>T
CA2579804060
NM_000071.3:c.898_900delinsTCA
CA2579804061
NM_000071.3:c.899_900delinsGT
CA2579804062
NM_000071.3:c.898_900delinsTCT