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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:
CA2538438575
Gene: CLCN3P1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.15120112_15120113insC , CM000671.2:g.15120112_15120113insC
GRCh38
NC_000009.11:g.15120110_15120111insC , CM000671.1:g.15120110_15120111insC
GRCh37
NC_000009.10:g.15110110_15110111insC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000609203.1:n.549+5617_549+5618insG
Search 100 bp 5'
Search 100 bp 3'