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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:
CA2504620621
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.43039501_43039502insAGTTTTGCTTTATTTG , CM000679.2:g.43039501_43039502insAGTTTTGCTTTATTTG
GRCh38
NC_000017.10:g.41191518_41191519insAGTTTTGCTTTATTTG , CM000679.1:g.41191518_41191519insAGTTTTGCTTTATTTG
GRCh37
NC_000017.9:g.38445044_38445045insAGTTTTGCTTTATTTG
NCBI36
NG_005905.2:g.178482_178483insCAAATAAAGCAAAACT , LRG_292:g.178482_178483insCAAATAAAGCAAAACT
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