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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
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Canonical Allele Identifier:
CA2637310901
Gene: CCL5
HGNC
NCBI
Linked Data
gnomAD v4:
17-35880611-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.35880613del , CM000679.2:g.35880613del
GRCh38
NC_000017.9:g.31231730del
NCBI36
NG_015990.1:g.4762del
Transcript Alleles
HGVS
Amino-acid change
ENST00000605509.2:c.-18+117del
ENSP00000474141.2:n.-18+117del
ENST00000605140.5:c.-18+117del
ENSP00000475057.1:n.-18+117del
XR_934696.1:n.197-3769del
XR_934697.1:n.200-3769del
XR_001752852.1:n.426+539del
XR_934696.2:n.91-3769del
XR_934697.2:n.91-3769del
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