Canonical Allele Identifier: PA2579795623
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1448081
ClinVar RCV Id: RCV002012057

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Met169Leu
CA410601362
NM_000071.3:c.505A>T
CA410601365
NM_000071.3:c.505A>C
CA2579805796
NM_000071.3:c.505_507delinsTTA
CA2579805797
NM_000071.3:c.505_507delinsCTA
CA2579805798
NM_000071.3:c.505_507delinsCTT