Canonical Allele Identifier: PA2579801049
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu423Ile
CA2579807328
NM_000071.3:c.1267_1269delinsATT
CA2579813587
NM_000071.3:c.1267_1269delinsATA