Canonical Allele Identifier: PA2826133225
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1365200
ClinVar RCV Id: RCV001929731
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171480.1:p.His17Asn
CA410602549
NM_001178009.3:c.49C>A
CA2579808871
NM_001178009.3:c.49_51delinsAAT