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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:
PA2827268819
Gene: KLHL10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40008
ClinVar RCV Id:
RCV000033135
RCV000957607
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001316524.1:p.Gln216Pro
CA130709
NM_001329595.1:c.647A>C