Canonical Allele Identifier: PA2827070226
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 212852
ClinVar RCV Id: RCV000199941 RCV000586183 RCV002228832 RCV003462304
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Asp129Asn
CA324489
NM_001321072.1:c.385G>A
CA2579811539
NM_001321072.1:c.385_387delinsAAT