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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:
CA2714500405
Gene:
Linked Data
dbSNP Id:
rs2153523963
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.50405583_50405584del , CM000669.2:g.50405583_50405584del
GRCh38
NC_000007.13:g.50473281_50473282del , CM000669.1:g.50473281_50473282del
GRCh37
NC_000007.12:g.50440775_50440776del
NCBI36
NG_034231.1:g.106501_106502del
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