Canonical Allele Identifier: PA2579795811
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val178Leu
CA410601211
NM_000071.3:c.532G>T
CA410601213
NM_000071.3:c.532G>C
CA2579803301
NM_000071.3:c.532_534delinsCTT