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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:
CA2637310881
Gene: CCL5
HGNC
NCBI
Linked Data
gnomAD v4:
17-35880589-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.35880594del , CM000679.2:g.35880594del
GRCh38
NC_000017.9:g.31231711del
NCBI36
NG_015990.1:g.4784del
Transcript Alleles
HGVS
Amino-acid change
ENST00000605509.2:c.-18+139del
ENSP00000474141.2:n.-18+139del
ENST00000605140.5:c.-18+139del
ENSP00000475057.1:n.-18+139del
XR_934696.1:n.197-3788del
XR_934697.1:n.200-3788del
XR_001752852.1:n.426+520del
XR_934696.2:n.91-3788del
XR_934697.2:n.91-3788del
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