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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:
CA983290053
Gene: CCL5
HGNC
NCBI
Linked Data
dbSNP Id:
rs2088505537
gnomAD v3:
17-35880620-AC-A
gnomAD v4:
17-35880620-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.35880622del , CM000679.2:g.35880622del
GRCh38
NC_000017.9:g.31231739del
NCBI36
NG_015990.1:g.4753del
Transcript Alleles
HGVS
Amino-acid change
ENST00000605509.2:c.-18+108del
ENSP00000474141.2:n.-18+108del
ENST00000605140.5:c.-18+108del
ENSP00000475057.1:n.-18+108del
XR_934696.1:n.197-3760del
XR_934697.1:n.200-3760del
XR_001752852.1:n.426+548del
XR_934696.2:n.91-3760del
XR_934697.2:n.91-3760del
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