Canonical Allele Identifier: PA2579794496
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly115Ala
CA410601901
NM_000071.3:c.344G>C
CA2579810117
NM_000071.3:c.344_345delinsCG
CA2579810118
NM_000071.3:c.344_345delinsCT