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Canonical Allele Identifier: Get Identifier
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001308001.1:p.Thr130Ser
NM_001321072.1:c.388A>T

NM_001321072.1:c.388_390delinsTCA

NM_001321072.1:c.388_390delinsTCG

NM_001321072.1:c.388_390delinsTCT

NM_001321072.1:c.389C>G

NM_001321072.1:c.389_390delinsGT