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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:
CA626914177
Gene: APOH
HGNC
NCBI
Linked Data
dbSNP Id:
rs1357371045
gnomAD v2:
17-64236152-CAGAGTG-C
gnomAD v3:
17-66240034-CAGAGTG-C
gnomAD v4:
17-66240034-CAGAGTG-C
MyVariant Identifiers:
chr17:g.64236153_64236158del (hg19)
chr17:g.66240035_66240040del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.66240038_66240043del , CM000679.2:g.66240038_66240043del
GRCh38
NC_000017.10:g.64236156_64236161del , CM000679.1:g.64236156_64236161del
GRCh37
NC_000017.9:g.61666618_61666623del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000577982.1:c.-43-10618_-43-10613del
ENSP00000464301.1:n.-43-10618_-43-10613de...
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