Canonical Allele Identifier: PA2827070416
Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 117
ClinVar RCV Id: RCV000000137 RCV000000138 RCV000078112 RCV000173641 RCV000366433 RCV002313701 RCV003914786
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308001.1:p.Gly202Ser
CA113874
NM_001321072.1:c.604G>A
CA2579809371
NM_001321072.1:c.604_606delinsAGT