Canonical Allele Identifier: PA2579792224
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu504Val
CA410395718
NM_000071.3:c.1511A>T
CA2579809747
NM_000071.3:c.1511_1512delinsTT