Canonical Allele Identifier: PA2579799967
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile373Ser
CA410398007
NM_000071.3:c.1118T>G
CA2579808635
NM_000071.3:c.1117_1119delinsTCG
CA2579808636
NM_000071.3:c.1117_1118delinsTC