Canonical Allele Identifier: PA2579792513
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln517Lys
CA410395529
NM_000071.3:c.1549C>A
CA2579810324
NM_000071.3:c.1549_1551delinsAAA