Canonical Allele Identifier: PA2827043047
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 118
ClinVar RCV Id: RCV000000139 RCV000625555 RCV001250193 RCV002227955
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Pro145Leu
CA113876
NM_001320298.2:c.434C>T
CA2579805921
NM_001320298.2:c.434_435delinsTA
CA2579805922
NM_001320298.2:c.434_435delinsTT
CA2579805923
NM_001320298.2:c.433_434delinsTT