Canonical Allele Identifier: PA2579794441
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Phe112Leu
CA410601916
NM_000071.3:c.336C>G
CA410601917
NM_000071.3:c.336C>A
CA410601922
NM_000071.3:c.334T>C
CA2579806244
NM_000071.3:c.334_336delinsCTG
CA2579806247
NM_000071.3:c.334_336delinsCTT