Allele Registry

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Canonical Allele Identifier: PA1139696270

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 936814

ClinVar RCV Id: RCV001205699 RCV002240961

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307227.1:p.Ala288Ser	CA321091499 NM_001320298.2:c.862G>T CA2579812911 NM_001320298.2:c.862_864delinsAGT CA2579812912 NM_001320298.2:c.862_864delinsTCT