Canonical Allele Identifier: PA2827043051
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 371512
ClinVar RCV Id: RCV000411624 RCV001193389 RCV002230731 RCV002328897 RCV003314591
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Gly148Arg
CA16042005
NM_001320298.2:c.442G>A
CA410601635
NM_001320298.2:c.442G>C
CA2579809668
NM_001320298.2:c.442_444delinsAGA
CA2579809669
NM_001320298.2:c.442_444delinsCGT