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: PA2825854349

Gene: CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 17506

ClinVar RCV Id: RCV000019058 RCV001092479

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136405.2:p.Pro129Ala	CA257975 NM_001142933.2:c.385C>G