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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:
CA886104128
Gene: CLCN6
HGNC
NCBI
NPPA-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1170210421
gnomAD v3:
1-11843943-CT-C
gnomAD v4:
1-11843943-CT-C
MyVariant Identifiers:
chr1:g.11904001del (hg19)
chr1:g.11843944del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.11843947del , CM000663.2:g.11843947del
GRCh38
NC_000001.10:g.11904004del , CM000663.1:g.11904004del
GRCh37
NC_000001.9:g.11826591del
NCBI36
NG_008766.1:g.42798del
NG_012926.1:g.8840del , LRG_751:g.8840del
Transcript Alleles
HGVS
Amino-acid change
ENST00000400892.3:c.*1615del
(CLCN6)
ENSP00000496938.1:n.*1615del
ENST00000446542.5:n.435del
(NPPA-AS1)
NR_037806.1:n.1133del
(NPPA-AS1)
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