Canonical Allele Identifier: PA2579797124
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile240Leu
CA410600487
NM_000071.3:c.718A>C
CA2579808467
NM_000071.3:c.718_720delinsCTT