Allele Registry

Canonical Allele Identifier: PA320929

Gene: CBS HGNC NCBI

Linked Data - Variant Effect Evidence

MaveDb:

Score 0.8844839754

Score 0.8396483843

Score 0.788

Score 0.8359

Linked Data - NCBI & NCI

ClinVar Allele:

210440

533942

ClinVar RCV:

RCV000196511

RCV000469139

RCV000648115

RCV002517171

RCV002533344

ClinVar Variation:

212879

538695

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000062.1:p.Gly134Arg	CA320927 NM_000071.3:c.400G>A CA321097659 NM_000071.3:c.400G>C CA2579809704 NM_000071.3:c.400_402delinsAGA