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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:
CA2810191545
Gene: APOH
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.66240317_66240318insAAAAA , CM000679.2:g.66240317_66240318insAAAAA
GRCh38
NC_000017.10:g.64236435_64236436insAAAAA , CM000679.1:g.64236435_64236436insAAAAA
GRCh37
NC_000017.9:g.61666897_61666898insAAAAA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000577982.1:c.-43-10893_-43-10892insTTTTT
ENSP00000464301.1:n.-43-10893_-43-10892insTTTTT
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