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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:
CA2160347207
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.103551467_103551469delinsCTG , CM000676.2:g.103551467_103551469delinsCTG
GRCh38
NC_000014.8:g.104017804_104017806delinsCTG , CM000676.1:g.104017804_104017806delinsCTG
GRCh37
NC_000014.7:g.103087557_103087559delinsCTG
NCBI36
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