Canonical Allele Identifier: PA2579792187
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile502Leu
CA410395750
NM_000071.3:c.1504A>C
CA2579807945
NM_000071.3:c.1504_1506delinsTTG
CA2579807946
NM_000071.3:c.1504_1506delinsCTG
CA2579807947
NM_000071.3:c.1504_1506delinsTTA
CA2579807949
NM_000071.3:c.1504_1506delinsCTT