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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:
CA2580613902
Gene:
Linked Data
ClinVar Variation Id:
2505161
ClinVar RCV Id:
RCV003233341
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.74773969_74776493del , CM000678.2:g.74773969_74776493del
GRCh38
NC_000016.9:g.74807867_74810391del , CM000678.1:g.74807867_74810391del
GRCh37
NC_000016.8:g.73365368_73367892del
NCBI36
NG_017070.1:g.3342_5866del
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