Canonical Allele Identifier: PA2580206212
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2169097
ClinVar RCV Id: RCV003093071
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307227.1:p.Thr5Asn
CA410602619
NM_001320298.2:c.14C>A
CA2579803653
NM_001320298.2:c.14_15delinsAT