Canonical Allele Identifier: PA2579795774
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_000062.1:p.Glu176Gly
CA410601275
NM_000071.3:c.527A>G
CA2579810084
NM_000071.3:c.527_528delinsGT