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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:
CA1947224184
Gene:
Linked Data
dbSNP Id:
rs1291033915
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.636701_636702insTGG , CM000673.2:g.636701_636702insTGG
GRCh38
NC_000011.9:g.636701_636702insTGG , CM000673.1:g.636701_636702insTGG
GRCh37
NC_000011.8:g.626701_626702insTGG
NCBI36
NG_021241.1:g.4397_4398insTGG
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