Canonical Allele Identifier: PA2579792481
Gene: CBS HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000062.1:p.Ile516Ser
NM_000071.3:c.1547T>G

NM_000071.3:c.1547_1548delinsGT