Canonical Allele Identifier: PA2579792503
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln517Ser
CA2579810317
NM_000071.3:c.1549_1551delinsTCT
CA2579810318
NM_000071.3:c.1549_1551delinsAGT
CA2579810320
NM_000071.3:c.1549_1550delinsTC