Canonical Allele Identifier: PA2579798135
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu287Pro
CA410600127
NM_000071.3:c.860T>C
CA2579807602
NM_000071.3:c.860_861delinsCT
CA2579807603
NM_000071.3:c.860_861delinsCA