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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:
CA9433779
Gene: CLC
HGNC
NCBI
Linked Data
dbSNP Id:
rs772592119
ExAC:
19:40225655 C / A
gnomAD v3:
19-39735015-C-A
gnomAD v4:
19-39735015-C-A
MyVariant Identifiers:
chr19:g.40225655C>A (hg19)
chr19:g.39735015C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.39735015C>A , CM000681.2:g.39735015C>A
GRCh38
NC_000019.9:g.40225655C>A , CM000681.1:g.40225655C>A
GRCh37
NC_000019.8:g.44917495C>A
NCBI36
NG_046978.1:g.8015G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000221804.5:c.74G>T
MANE Select
ENSP00000221804.3:p.Arg25Leu
ENST00000221804.4:c.74G>T
ENSP00000221804.3:p.Arg25Leu
NM_001828.5:c.74G>T
NP_001819.2:p.Arg25Leu
NM_001828.6:c.74G>T
MANE Select
NP_001819.2:p.Arg25Leu
Search 100 bp 5'
Search 100 bp 3'