Canonical Allele Identifier: PA2579796183
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly20Phe
CA2579809539
NM_000071.3:c.58_60delinsTTC
CA2579809542
NM_000071.3:c.58_60delinsTTT