Canonical Allele Identifier: PA2741857618
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2756119
ClinVar RCV Id: RCV003495852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Glu71Gly
CA410601275
NM_001321072.1:c.212A>G
CA2579810084
NM_001321072.1:c.212_213delinsGT