Canonical Allele Identifier: PA2579795727
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser174Thr
CA410601300
NM_000071.3:c.521G>C
CA2579804741
NM_000071.3:c.521_522delinsCG