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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:
CA1007776740
Gene: LCE3C
HGNC
NCBI
Linked Data
dbSNP Id:
rs1659894090
gnomAD v3:
1-152565425-AC-A
gnomAD v4:
1-152565425-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.152565428del , CM000663.2:g.152565428del
GRCh38
NC_000001.10:g.152537904del , CM000663.1:g.152537904del
GRCh37
NC_000001.9:g.150804528del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000617545.1:c.45-35363del
ENSP00000482477.1:n.45-35363del
Search 100 bp 5'
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