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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:
CA1458424538
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.54072450_54072451delinsCA , CM000666.2:g.54072450_54072451delinsCA
GRCh38
NC_000004.11:g.54938617_54938618delinsCA , CM000666.1:g.54938617_54938618delinsCA
GRCh37
NC_000004.10:g.54633374_54633375delinsCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000507166.5:c.1018-202475_1018-202474delinsCA
ENSP00000423325.1:n.1018-202475_1018-2024...
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