Canonical Allele Identifier: PA2579793569
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ala71Val
CA410602201
NM_000071.3:c.212C>T
CA2579812249
NM_000071.3:c.212_213delinsTT