Canonical Allele Identifier: PA2579792469
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln515Leu
CA410395557
NM_000071.3:c.1544A>T
CA2579810347
NM_000071.3:c.1544_1545delinsTT
CA2579810348
NM_000071.3:c.1544_1545delinsTA
CA2579810349
NM_000071.3:c.1543_1544delinsTT