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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:
CA626914213
Gene: APOH
HGNC
NCBI
Linked Data
dbSNP Id:
rs961641549
gnomAD v2:
17-64236436-G-GA
gnomAD v3:
17-66240318-G-GA
gnomAD v4:
17-66240318-G-GA
MyVariant Identifiers:
chr17:g.64236437_64236438insA (hg19)
chr17:g.64236436_64236437insA (hg19)
chr17:g.66240319_66240320insA (hg38)
chr17:g.66240318_66240319insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.66240327dup , CM000679.2:g.66240327dup
GRCh38
NC_000017.10:g.64236445dup , CM000679.1:g.64236445dup
GRCh37
NC_000017.9:g.61666907dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000577982.1:c.-43-10897dup
ENSP00000464301.1:n.-43-10897dup
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