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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:
CA1121649843
Gene: CLCN3P1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1821542004
gnomAD v3:
9-15120124-CTCT-C
gnomAD v4:
9-15120124-CTCT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.15120127_15120129del , CM000671.2:g.15120127_15120129del
GRCh38
NC_000009.11:g.15120125_15120127del , CM000671.1:g.15120125_15120127del
GRCh37
NC_000009.10:g.15110125_15110127del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000609203.1:n.549+5603_549+5605del
Search 100 bp 5'
Search 100 bp 3'