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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:
CA917387342
Gene: F11-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1560844408
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186417093_186417094insG , CM000666.2:g.186417093_186417094insG
GRCh38
NC_000004.11:g.187338247_187338248insG , CM000666.1:g.187338247_187338248insG
GRCh37
NC_000004.10:g.187575241_187575242insG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_033900.1:n.214+83751_214+83752insC
XR_427648.2:n.1186-758_1186-757insC
XR_939587.1:n.1354-758_1354-757insC
XR_939588.1:n.1074-758_1074-757insC
NR_033901.2:n.1573-758_1573-757insC
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