Canonical Allele Identifier: PA916024768
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_001308001.1:p.Gly43Arg
CA16042005
NM_001321072.1:c.127G>A
CA410601635
NM_001321072.1:c.127G>C
CA2579809668
NM_001321072.1:c.127_129delinsAGA
CA2579809669
NM_001321072.1:c.127_129delinsCGT