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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:
CA915945658
Gene:
Linked Data
ClinVar Variation Id:
635961
ClinVar RCV Id:
RCV000787467
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.38463238_38470748del , CM000670.2:g.38463238_38470748del
GRCh38
NC_000008.10:g.38320756_38328266del , CM000670.1:g.38320756_38328266del
GRCh37
NC_000008.9:g.38439913_38447423del
NCBI36
NG_007729.1:g.3088_10598del
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