Canonical Allele Identifier: PA2579792957
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp538Ala
CA410394683
NM_000071.3:c.1613A>C
CA2579811076
NM_000071.3:c.1613_1614delinsCT
CA2579811077
NM_000071.3:c.1613_1614delinsCG