Allele Registry

Canonical Allele Identifier: PA3057560830

Gene: CBS HGNC NCBI

ClinVar RCV:

RCV004691064

ClinVar Variation:

3336484

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308001.1:p.Val63Leu	CA410601371 NM_001321072.1:c.187G>T CA410601372 NM_001321072.1:c.187G>C CA2579803311 NM_001321072.1:c.187_189delinsTTA CA2579803312 NM_001321072.1:c.187_189delinsCTT