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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:
CA2345844004
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.1875501_1875503delinsCAT , CM000682.2:g.1875501_1875503delinsCAT
GRCh38
NC_000020.10:g.1856147_1856149delinsCAT , CM000682.1:g.1856147_1856149delinsCAT
GRCh37
NC_000020.9:g.1804147_1804149delinsCAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001754467.1:n.433-7410_433-7408delinsATG
Search 100 bp 5'
Search 100 bp 3'