Canonical Allele Identifier: PA2579792507
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gln517Arg
CA410395521
NM_000071.3:c.1550A>G
CA2579810335
NM_000071.3:c.1549_1550delinsAG
CA2579810337
NM_000071.3:c.1550_1551delinsGA
CA2579810338
NM_000071.3:c.1550_1551delinsGT