Canonical Allele Identifier: PA2826133762
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1306758
ClinVar RCV Id: RCV001770938
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.Ile437Thr
CA410397070
NM_001178009.3:c.1310T>C
CA2579808068
NM_001178009.3:c.1310_1311delinsCT
CA2579808070
NM_001178009.3:c.1310_1311delinsCA
CA2579808071
NM_001178009.3:c.1310_1311delinsCG