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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:
CA2763876275
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.144601443_144601450del , CM000666.2:g.144601443_144601450del
GRCh38
NC_000004.11:g.145522595_145522602del , CM000666.1:g.145522595_145522602del
GRCh37
NC_000004.10:g.145742045_145742052del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000649263.1:c.328-185472_328-185465del
ENSP00000497507.1:n.328-185472_328-185465del
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