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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:
CA1504947286
Gene:
Linked Data
dbSNP Id:
rs1730916844
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.154594325_154594326del , CM000666.2:g.154594325_154594326del
GRCh38
NC_000004.11:g.155515477_155515478del , CM000666.1:g.155515477_155515478del
GRCh37
NC_000004.10:g.155734927_155734928del
NCBI36
NG_008832.1:g.1422_1423del , LRG_557:g.1422_1423del
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