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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:
PA2825853842
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17506
ClinVar RCV Id:
RCV000019058
RCV001092479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136401.2:p.Pro93Ala
CA257975
NM_001142929.2:c.277C>G