Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2827070198

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 553698

ClinVar RCV Id: RCV000669206 RCV002232634 RCV003330883

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Asn123Ser	CA410600619 NM_001321072.1:c.368A>G CA2579811810 NM_001321072.1:c.368_369delinsGT CA2579811811 NM_001321072.1:c.367_369delinsTCT