Canonical Allele Identifier: PA2579801604
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val449Ile
CA2579802992
NM_000071.3:c.1345_1347delinsATA
CA2579802993
NM_000071.3:c.1345_1347delinsATT