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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:
CA2560691740
Gene: CLCN3P1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.15120200del , CM000671.2:g.15120200del
GRCh38
NC_000009.11:g.15120198del , CM000671.1:g.15120198del
GRCh37
NC_000009.10:g.15110198del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000609203.1:n.549+5532del
Search 100 bp 5'
Search 100 bp 3'