ClinGen Allele Registry
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Canonical Allele Identifier:
CA804228217
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr5:g.135021015T>A
GRCh37
chr5:g.134356705T>A
Linked Data - Sequence & Population
gnomAD v3:
5:135021015 T / A
gnomAD v4:
chr5-135021015-T-A
Linked Data - NCBI & NCI
dbSNP:
526896
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.135021015T>A , CM000667.2:g.135021015T>A
GRCh38
NC_000005.9:g.134356705T>A , CM000667.1:g.134356705T>A
GRCh37
NC_000005.8:g.134384604T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742894.1:n.378+870A>T
Search 100 bp 5'
Search 100 bp 3'