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ClinGen Allele Registry
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Canonical Allele Identifier:
CA242663773
Community Standard Title: NC_000012.12:g.102481086A>G
Gene: IGF1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.102481086A>G , CM000674.2:g.102481086A>G
GRCh38
NC_000012.11:g.102874864A>G , CM000674.1:g.102874864A>G
GRCh37
NC_000012.10:g.101398994A>G
NCBI36
NG_011713.1:g.4515T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000644491.1:c.-20+617T>C
ENSP00000494228.1:n.-20+617T>C
XM_017019259.1:c.114+617T>C
XP_016874748.1:n.114+617T>C
XM_017019262.2:c.114+617T>C
XP_016874751.1:n.114+617T>C
XM_017019263.2:c.114+617T>C
XP_016874752.1:n.114+617T>C
XR_944536.1:n.84+617T>C
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