Canonical Allele Identifier: PA2579793592
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys72Arg
CA410602196
NM_000071.3:c.215A>G
CA2579806083
NM_000071.3:c.214_216delinsCGG