Canonical Allele Identifier: PA2579797140
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu241Arg
CA410600472
NM_000071.3:c.722T>G
CA2579807681
NM_000071.3:c.721_722delinsAG
CA2579813603
NM_000071.3:c.722_723delinsGT