ClinGen Allele Registry
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Canonical Allele Identifier:
CA442024390
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.164987569A>T
GRCh37
chr4:g.165908721A>T
Linked Data - Sequence & Population
gnomAD v4:
chr4-164987569-A-T
Linked Data - NCBI & NCI
dbSNP:
4691139
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.164987569A>T , CM000666.2:g.164987569A>T
GRCh38
NC_000004.11:g.165908721A>T , CM000666.1:g.165908721A>T
GRCh37
NC_000004.10:g.166128171A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000510050.1:n.305A>T
Search 100 bp 5'
Search 100 bp 3'