Canonical Allele Identifier: PA2579794473
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn113His
CA410601915
NM_000071.3:c.337A>C
CA2579812340
NM_000071.3:c.337_339delinsCAT