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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:
CA2189605721
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.78622737A= , CM000677.2:g.78622737A=
GRCh38
NC_000015.9:g.78915079A= , CM000677.1:g.78915079A=
GRCh37
NC_000015.8:g.76702134A=
NCBI36
NG_016143.1:g.3559T=
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