ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2579800860
Gene: CBS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000062.1:p.Val414Asn
CA2579803061
NM_000071.3:c.1240_1241delinsAA