ClinGen Allele Registry
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Canonical Allele Identifier:
CA1026411177
Gene: EPIC1
HGNC
NCBI
Linked Data - Sequence & Population
gnomAD v3:
22:47792504 T / G
gnomAD v4:
chr22-47792504-T-G
Linked Data - NCBI & NCI
dbSNP:
5767992
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.47792504T>G , CM000684.2:g.47792504T>G
GRCh38
NC_000022.10:g.48188253T>G , CM000684.1:g.48188253T>G
GRCh37
NC_000022.9:g.46566917T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_122046.1:n.1125+53928T>G
Search 100 bp 5'
Search 100 bp 3'