Canonical Allele Identifier: PA2827043078
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1448081
ClinVar RCV Id: RCV002012057
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Met169Leu
CA410601362
NM_001320298.2:c.505A>T
CA410601365
NM_001320298.2:c.505A>C
CA2579805796
NM_001320298.2:c.505_507delinsTTA
CA2579805797
NM_001320298.2:c.505_507delinsCTA
CA2579805798
NM_001320298.2:c.505_507delinsCTT