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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:
CA2271197589
Gene: APOH
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.66240034_66240040delinsCAGAGTG , CM000679.2:g.66240034_66240040delinsCAGAGTG
GRCh38
NC_000017.10:g.64236152_64236158delinsCAGAGTG , CM000679.1:g.64236152_64236158delinsCAGAGTG
GRCh37
NC_000017.9:g.61666614_61666620delinsCAGAGTG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000577982.1:c.-43-10618_-43-10612delinsCACTCTG
ENSP00000464301.1:n.-43-10618_-43-10612de...
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