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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:
CA1500739347
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.144601560_144601561delinsTC , CM000666.2:g.144601560_144601561delinsTC
GRCh38
NC_000004.11:g.145522712_145522713delinsTC , CM000666.1:g.145522712_145522713delinsTC
GRCh37
NC_000004.10:g.145742162_145742163delinsTC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000649263.1:c.328-185583_328-185582delinsGA
ENSP00000497507.1:n.328-185583_328-185582delinsGA
Search 100 bp 5'
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