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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:
CA1069062021
Gene:
Linked Data
gnomAD v3:
4-144601557-ATCTC-A
gnomAD v4:
4-144601557-ATCTC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.144601558_144601561del , CM000666.2:g.144601558_144601561del
GRCh38
NC_000004.11:g.145522710_145522713del , CM000666.1:g.145522710_145522713del
GRCh37
NC_000004.10:g.145742160_145742163del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000649263.1:c.328-185583_328-185580del
ENSP00000497507.1:n.328-185583_328-185580del
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