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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:
CA2603984911
Gene:
Linked Data
gnomAD v3:
4-120592119-T-TCTCTTTTCTCCTCCTCCTC
gnomAD v4:
4-120592119-T-TCTCTTTTCTCCTCCTCCTC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.120592123_120592141dup , CM000666.2:g.120592123_120592141dup
GRCh38
NC_000004.11:g.121513278_121513296dup , CM000666.1:g.121513278_121513296dup
GRCh37
NC_000004.10:g.121732728_121732746dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'