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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:
CA2338169216
Gene:
Linked Data
dbSNP Id:
rs1969922800
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.44911129_44911135del , CM000681.2:g.44911129_44911135del
GRCh38
NC_000019.9:g.45414386_45414392del , CM000681.1:g.45414386_45414392del
GRCh37
NC_000019.8:g.50106226_50106232del
NCBI36
NG_007084.2:g.10348_10354del
NG_012859.1:g.1466_1472del
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