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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
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Canonical Allele Identifier:
CA2085925818
Gene: LHFPL6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.39329094_39329098delinsTGATA , CM000675.2:g.39329094_39329098delinsTGATA
GRCh38
NC_000013.10:g.39903231_39903235delinsTGATA , CM000675.1:g.39903231_39903235delinsTGATA
GRCh37
NC_000013.9:g.38801231_38801235delinsTGATA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648377.1:c.*82+14756_*82+14760delinsTATCA
ENSP00000496801.1:n.*82+14756_*82+14760delinsTATCA
XR_001749845.1:n.1449+7173_1449+7177delinsTATCA
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