ClinGen Allele Registry
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Canonical Allele Identifier:
PA096662
Gene: CBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000062.1:p.Pro422Leu
NM_000071.3:c.1264_1265delinsTT
NM_000071.3:c.1265C>T
NM_000071.3:c.1265_1266delinsTC
NM_000071.3:c.1265_1266delinsTT