Canonical Allele Identifier: PA2579796536
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn212Leu
CA2579812288
NM_000071.3:c.634_636delinsTTG
CA2579812289
NM_000071.3:c.634_635delinsCT
CA2579812291
NM_000071.3:c.634_636delinsCTT