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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:
PA252070
Gene: ARL6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2042
ClinVar RCV Id:
RCV000002123
RCV001723532
RCV001851573
RCV003133114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115522.1:p.Thr31Met
CA252069
NM_032146.5:c.92C>T