ClinGen Allele Registry
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Canonical Allele Identifier:
CA47778317
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr2:g.53038991C>A
GRCh37
chr2:g.53266129C>A
Linked Data - Sequence & Population
gnomAD v3:
2:53038991 C / A
gnomAD v4:
chr2-53038991-C-A
Linked Data - NCBI & NCI
dbSNP:
2357013
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.53038991C>A , CM000664.2:g.53038991C>A
GRCh38
NC_000002.11:g.53266129C>A , CM000664.1:g.53266129C>A
GRCh37
NC_000002.10:g.53119633C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_002959384.1:n.124-128967G>T
Search 100 bp 5'
Search 100 bp 3'