Canonical Allele Identifier: PA2579794433
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Phe112Ser
CA410601919
NM_000071.3:c.335T>C
CA2579806241
NM_000071.3:c.335_336delinsCA
CA2579806242
NM_000071.3:c.334_336delinsAGT
CA2579806243
NM_000071.3:c.335_336delinsCG