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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:
CA2697556487
Gene:
Linked Data
ClinVar Variation Id:
5795
ClinVar RCV Id:
RCV000006151
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.35905861_35911126del , CM000681.2:g.35905861_35911126del
GRCh38
NC_000019.9:g.36396763_36402028del , CM000681.1:g.36396763_36402028del
GRCh37
NC_000019.8:g.41088603_41093868del
NCBI36
NG_009304.1:g.2159_7424del , LRG_607:g.2159_7424del
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