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Canonical Allele Identifier:
CA84794731
Gene: HLMR1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr3:g.142930268C>A
GRCh37
chr3:g.142649110C>A
Linked Data - Sequence & Population
gnomAD v2:
3:142649110 C / A
gnomAD v3:
3:142930268 C / A
gnomAD v4:
chr3-142930268-C-A
Joint Max Group AF
0.00015886 (NFE)
Genomes Max Group AF
0.00015886 (NFE)
Linked Data - NCBI & NCI
dbSNP:
9832727
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.142930268C>A , CM000665.2:g.142930268C>A
GRCh38
NC_000003.11:g.142649110C>A , CM000665.1:g.142649110C>A
GRCh37
NC_000003.10:g.144131800C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_038455.1:n.223-2937C>A
Search 100 bp 5'
Search 100 bp 3'