Canonical Allele Identifier: PA2579801626
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp450Leu
CA2579811691
NM_000071.3:c.1348_1350delinsTTA
CA2579811692
NM_000071.3:c.1348_1349delinsCT
CA2579811693
NM_000071.3:c.1348_1350delinsTTG
CA2579811694
NM_000071.3:c.1348_1350delinsCTG