ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2711143768
Gene:
Linked Data
dbSNP Id:
rs1048131538
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31439966G>T , CM000668.2:g.31439966G>T
GRCh38
NC_000006.11:g.31407743G>T , CM000668.1:g.31407743G>T
GRCh37
NC_000006.10:g.31515722G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_926694.1:n.141C>A
Search 100 bp 5'
Search 100 bp 3'