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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:
CA1504947245
Gene:
Linked Data
dbSNP Id:
rs1730915817
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.154594216_154594217del , CM000666.2:g.154594216_154594217del
GRCh38
NC_000004.11:g.155515368_155515369del , CM000666.1:g.155515368_155515369del
GRCh37
NC_000004.10:g.155734818_155734819del
NCBI36
NG_008832.1:g.1529_1530del , LRG_557:g.1529_1530del
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