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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:
CA955176731
Gene: LHFPL6
HGNC
NCBI
Linked Data
dbSNP Id:
rs1868946601
gnomAD v3:
13-39329100-CA-C
gnomAD v4:
13-39329100-CA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.39329104del , CM000675.2:g.39329104del
GRCh38
NC_000013.10:g.39903241del , CM000675.1:g.39903241del
GRCh37
NC_000013.9:g.38801241del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648377.1:c.*82+14753del
ENSP00000496801.1:n.*82+14753del
XR_001749845.1:n.1449+7170del
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