Canonical Allele Identifier: PA2826133072
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2772980
ClinVar RCV Id: RCV003496825
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171479.1:p.Val425Leu
CA410397282
NM_001178008.3:c.1273G>T
CA410397285
NM_001178008.3:c.1273G>C
CA2579803036
NM_001178008.3:c.1273_1275delinsCTT
CA2579803037
NM_001178008.3:c.1273_1275delinsTTA