Canonical Allele Identifier: PA2579792057
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu496Ile
CA2579807100
NM_000071.3:c.1486_1488delinsATA
CA2579807101
NM_000071.3:c.1486_1488delinsATT