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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:
CA1749618141
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.145144385_145144387delinsCTT , CM000669.2:g.145144385_145144387delinsCTT
GRCh38
NC_000007.13:g.144841478_144841480delinsCTT , CM000669.1:g.144841478_144841480delinsCTT
GRCh37
NC_000007.12:g.144472411_144472413delinsCTT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_928090.1:n.1968-12550_1968-12548delinsCTT
XR_928090.2:n.4143-12550_4143-12548delinsCTT
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