ClinGen Allele Registry
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Canonical Allele Identifier:
CA58335703
Gene: MMADHC-DT
HGNC
NCBI
Linked Data
dbSNP Id:
rs10170236
gnomAD v2:
2-150457624-G-A
gnomAD v3:
2-149601110-G-A
gnomAD v4:
2-149601110-G-A
MyVariant Identifiers:
chr2:g.150457624G>A (hg19)
chr2:g.149601110G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.149601110G>A , CM000664.2:g.149601110G>A
GRCh38
NC_000002.11:g.150457624G>A , CM000664.1:g.150457624G>A
GRCh37
NC_000002.10:g.150165870G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_110240.1:n.493+13260G>A
Search 100 bp 5'
Search 100 bp 3'