Canonical Allele Identifier: PA2579798249
Gene: CBS HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu293Val
CA410600095
NM_000071.3:c.877C>G
CA2579807566
NM_000071.3:c.877_879delinsGTT