Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA916024465

Gene: CBS HGNC NCBI

Linked Data

ClinVar Variation Id: 126

ClinVar RCV Id: RCV000000148 RCV000000149 RCV000078108 RCV000174656 RCV000781196 RCV002381232

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307227.1:p.Asp444Asn	CA113893 NM_001320298.2:c.1330G>A CA2579811721 NM_001320298.2:c.1330_1332delinsAAT