ClinGen Allele Registry
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Canonical Allele Identifier:
CA93261747
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr4:g.13100727G>A
GRCh37
chr4:g.13102351G>A
Linked Data - Sequence & Population
gnomAD v2:
4:13102351 G / A
Linked Data - NCBI & NCI
dbSNP:
13122273
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.13100727G>A , CM000666.2:g.13100727G>A
GRCh38
NC_000004.11:g.13102351G>A , CM000666.1:g.13102351G>A
GRCh37
NC_000004.10:g.12711449G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_925410.1:n.456+45805C>T
Search 100 bp 5'
Search 100 bp 3'