Canonical Allele Identifier: PA2579792420
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2416538
ClinVar RCV Id: RCV003107287

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.His513Arg
CA410395613
NM_000071.3:c.1538A>G
CA2579809105
NM_000071.3:c.1538_1539delinsGT
CA2579809106
NM_000071.3:c.1537_1539delinsAGG