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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:
CA1949563184
Gene:
Linked Data
dbSNP Id:
rs1847510046
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.5225075_5225078del , CM000673.2:g.5225075_5225078del
GRCh38
NC_000011.9:g.5246305_5246308del , CM000673.1:g.5246305_5246308del
GRCh37
NC_000011.8:g.5202881_5202884del
NCBI36
NG_000007.3:g.72542_72545del
NG_059281.1:g.6998_7001del
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