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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:
CA189418037
Gene: CLCN3P1
HGNC
NCBI
Linked Data
dbSNP Id:
rs35976808
MyVariant Identifiers:
chr9:g.15120102_15120103insA (hg19)
chr9:g.15120104_15120105insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.15120104_15120105insA , CM000671.2:g.15120104_15120105insA
GRCh38
NC_000009.11:g.15120102_15120103insA , CM000671.1:g.15120102_15120103insA
GRCh37
NC_000009.10:g.15110102_15110103insA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000609203.1:n.549+5625_549+5626insT
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