Canonical Allele Identifier: PA2579794240
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Cys103Ser
CA410601997
NM_000071.3:c.308G>C
CA410602001
NM_000071.3:c.307T>A
CA2579811020
NM_000071.3:c.308_309delinsCG