Canonical Allele Identifier: PA2579795751
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser175Leu
CA2579804718
NM_000071.3:c.523_525delinsCTG
CA2579804719
NM_000071.3:c.524_525delinsTA
CA2579804720
NM_000071.3:c.523_525delinsCTT
CA2579804721
NM_000071.3:c.524_525delinsTG