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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:
CA1522657409
Gene:
Linked Data
dbSNP Id:
rs1733855422
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1447754_1447756del , CM000667.2:g.1447754_1447756del
GRCh38
NC_000005.9:g.1447869_1447871del , CM000667.1:g.1447869_1447871del
GRCh37
NC_000005.8:g.1500869_1500871del
NCBI36
NG_015885.1:g.2674_2676del
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