Canonical Allele Identifier: PA2579796577
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile214Leu
CA410600832
NM_000071.3:c.640A>C
CA2579808504
NM_000071.3:c.640_642delinsCTG
CA2579808505
NM_000071.3:c.640_642delinsCTT
CA2579808506
NM_000071.3:c.640_642delinsTTG