Canonical Allele Identifier: PA2579801500
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp444Leu
CA2579811714
NM_000071.3:c.1330_1332delinsTTG
CA2579811715
NM_000071.3:c.1330_1332delinsCTG
CA2579811716
NM_000071.3:c.1330_1332delinsCTT