Canonical Allele Identifier: PA2827070487
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 193793
ClinVar RCV Id: RCV000173977 RCV001252181 RCV002516607 RCV003462276
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Ala226Val
CA239449
NM_001321072.1:c.677C>T
CA2579812880
NM_001321072.1:c.677_678delinsTA
CA2579812881
NM_001321072.1:c.677_678delinsTT