Canonical Allele Identifier: PA2579792136
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser500Val
CA2579804560
NM_000071.3:c.1498_1499delinsGT
CA2579804561
NM_000071.3:c.1498_1500delinsGTA
CA2579804562
NM_000071.3:c.1498_1500delinsGTT