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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:
CA1502607184
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.148748314_148748315delinsGC , CM000666.2:g.148748314_148748315delinsGC
GRCh38
NC_000004.11:g.149669466_149669467delinsGC , CM000666.1:g.149669466_149669467delinsGC
GRCh37
NC_000004.10:g.149888916_149888917delinsGC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001741441.1:n.1746-118443_1746-118442delinsGC
Search 100 bp 5'
Search 100 bp 3'