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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:
CA2590047960
Gene: LINC00596
HGNC
NCBI
Linked Data
gnomAD v3:
14-23912352-TG-T
gnomAD v4:
14-23912352-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23912354del , CM000676.2:g.23912354del
GRCh38
NC_000014.8:g.24381563del , CM000676.1:g.24381563del
GRCh37
NC_000014.7:g.23451403del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_429343.2:n.179-9641del
XR_001750659.1:n.196-9641del
XR_429343.3:n.196-9641del
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