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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:
PA2573274004
Gene: ALPK3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1444184
ClinVar RCV Id:
RCV001981704
RCV002388911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065829.4:p.Lys334Glu
CA393374051
NM_020778.5:c.1000A>G