Canonical Allele Identifier: PA2579792335
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ala509Leu
CA2579813023
NM_000071.3:c.1525_1527delinsTTA
CA2579813024
NM_000071.3:c.1525_1527delinsTTG
CA2579813025
NM_000071.3:c.1525_1527delinsCTT