Canonical Allele Identifier: PA2579792274
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asp506Gly
CA410395695
NM_000071.3:c.1517A>G
CA2579811178
NM_000071.3:c.1517_1518delinsGG
CA2579811179
NM_000071.3:c.1517_1518delinsGT