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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:
CA2290579199
Gene: HRH4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.24480895_24480896delinsCT , CM000680.2:g.24480895_24480896delinsCT
GRCh38
NC_000018.9:g.22060859_22060860delinsCT , CM000680.1:g.22060859_22060860delinsCT
GRCh37
NC_000018.8:g.20314857_20314858delinsCT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011526133.1:c.358-5775_358-5774delinsCT
XP_011524435.1:n.358-5775_358-5774delinsC...
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