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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:
PA138290
Gene: DTNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
46412
ClinVar RCV Id:
RCV000039668
RCV000171933
RCV000547018
RCV003934944
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001381.2:p.Asp467Asn
CA138287
NM_001390.5:c.1399G>A