ClinGen Allele Registry
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Canonical Allele Identifier:
CA14659678
Gene: HPN-AS1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr19:g.35068570T>C
GRCh37
chr19:g.35559474T>C
Linked Data - Sequence & Population
gnomAD v2:
19:35559474 T / C
gnomAD v3:
19:35068570 T / C
gnomAD v4:
chr19-35068570-T-C
Joint Max Group AF
0.16055351 (NFE)
Genomes Max Group AF
0.16055351 (NFE)
Linked Data - NCBI & NCI
dbSNP:
11671010
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.35068570T>C , CM000681.2:g.35068570T>C
GRCh38
NC_000019.9:g.35559474T>C , CM000681.1:g.35559474T>C
GRCh37
NC_000019.8:g.40251314T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_024562.1:n.405-8792A>G
Search 100 bp 5'
Search 100 bp 3'