Canonical Allele Identifier: PA2579796420
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro21Leu
CA410602523
NM_000071.3:c.62C>T
CA2579806591
NM_000071.3:c.62_63delinsTC
CA2579806594
NM_000071.3:c.61_63delinsTTG
CA2579806595
NM_000071.3:c.62_63delinsTT
CA2579806596
NM_000071.3:c.62_63delinsTG