Canonical Allele Identifier: PA2826133421
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1744446
ClinVar RCV Id: RCV002342824
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Ile166Leu
CA410601395
NM_001178009.3:c.496A>C
CA2579808532
NM_001178009.3:c.496_498delinsCTT
CA2579808533
NM_001178009.3:c.496_498delinsTTG
CA2579808534
NM_001178009.3:c.496_498delinsCTG