Canonical Allele Identifier: PA2579792300
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.His507Asn
CA410395687
NM_000071.3:c.1519C>A
CA2579809128
NM_000071.3:c.1519_1521delinsAAT