ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579797010
Gene: CBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000062.1:p.Thr235Ser
NM_000071.3:c.703A>T
NM_000071.3:c.703_705delinsTCA
NM_000071.3:c.703_705delinsTCG
NM_000071.3:c.703_705delinsTCT
NM_000071.3:c.704C>G
NM_000071.3:c.704_705delinsGT