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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:
PA2826521975
Gene: ARMC9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427936
ClinVar RCV Id:
RCV000490913
RCV000515485
RCV001034541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258395.2:p.Pro520Leu
CA350957057
NM_001271466.4:c.1559C>T