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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:
CA293120801
Gene: APOH
HGNC
NCBI
Linked Data
dbSNP Id:
rs961641549
gnomAD v2:
17-64236436-GA-G
gnomAD v3:
17-66240318-GA-G
gnomAD v4:
17-66240318-GA-G
MyVariant Identifiers:
chr17:g.64236437del (hg19)
chr17:g.66240319del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.66240327del , CM000679.2:g.66240327del
GRCh38
NC_000017.10:g.64236445del , CM000679.1:g.64236445del
GRCh37
NC_000017.9:g.61666907del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000577982.1:c.-43-10897del
ENSP00000464301.1:n.-43-10897del
Search 100 bp 5'
Search 100 bp 3'