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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:
CA2261156615
Gene:
Linked Data
dbSNP Id:
rs1597840224
rs2151400639
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.43952727C>G , CM000679.2:g.43952727C>G
GRCh38
NC_000017.10:g.42030095C>G , CM000679.1:g.42030095C>G
GRCh37
NC_000017.9:g.39385621C>G
NCBI36
NG_023338.1:g.56743G>C
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