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: PA2829961497

Gene: CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 17510

ClinVar RCV Id: RCV000019062 RCV001579920 RCV002271372

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_066266.4:p.Arg442His	CA257987 NM_020986.4:c.1325G>A