Canonical Allele Identifier: PA2741863169
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2577381
ClinVar RCV Id: RCV003324458
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Leu81Val
CA410602142
NM_001320298.2:c.241C>G
CA2579806870
NM_001320298.2:c.241_243delinsGTT