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: PA2829961656

Gene: CHAT HGNC NCBI

Linked Data

ClinVar Variation Id: 523529

ClinVar RCV Id: RCV000626953 RCV003517254

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_066266.4:p.Ser576Cys	CA206624072 NM_020986.4:c.1727C>G