Canonical Allele Identifier: PA2579792519
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln517Pro
CA410395523
NM_000071.3:c.1550A>C
CA2579810319
NM_000071.3:c.1550_1551delinsCC
CA2579810321
NM_000071.3:c.1550_1551delinsCT