Canonical Allele Identifier: PA2579793084
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro6Leu
CA410602612
NM_000071.3:c.17C>T
CA2579804836
NM_000071.3:c.17_18delinsTT
CA2579804837
NM_000071.3:c.17_18delinsTA
CA2579804838
NM_000071.3:c.16_18delinsTTG
CA2579804839
NM_000071.3:c.17_18delinsTG