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: PA2825855258

Gene: CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 523529

ClinVar RCV Id: RCV000626953 RCV003517254

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136406.2:p.Ser576Cys	CA206624072 NM_001142934.2:c.1727C>G