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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:
CA2345844002
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.1875499_1875503delinsCACAT , CM000682.2:g.1875499_1875503delinsCACAT
GRCh38
NC_000020.10:g.1856145_1856149delinsCACAT , CM000682.1:g.1856145_1856149delinsCACAT
GRCh37
NC_000020.9:g.1804145_1804149delinsCACAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001754467.1:n.433-7410_433-7406delinsATGTG
Search 100 bp 5'
Search 100 bp 3'