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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573094227
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17510
ClinVar RCV Id:
RCV000019062
RCV001579920
RCV002271372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065574.4:p.Arg560His
CA257987
NM_020549.5:c.1679G>A