Canonical Allele Identifier: PA2579792192
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile502Cys
CA2579807953
NM_000071.3:c.1504_1505delinsTG
CA2579807954
NM_000071.3:c.1504_1506delinsTGT