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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:
CA1835374238
Gene: CLCN3P1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.15120124_15120127delinsCTCT , CM000671.2:g.15120124_15120127delinsCTCT
GRCh38
NC_000009.11:g.15120122_15120125delinsCTCT , CM000671.1:g.15120122_15120125delinsCTCT
GRCh37
NC_000009.10:g.15110122_15110125delinsCTCT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000609203.1:n.549+5603_549+5606delinsAGAG
Search 100 bp 5'
Search 100 bp 3'