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ClinGen Allele Registry
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Canonical Allele Identifier:
CA11903390
Community Standard Title: NM_005130.5(FGFBP1):c.-20-117G>A
Gene: FGFBP1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.15936769C>T , CM000666.2:g.15936769C>T
GRCh38
NC_000004.11:g.15938392C>T , CM000666.1:g.15938392C>T
GRCh37
NC_000004.10:g.15547490C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NM_005130.5:c.-20-117G>A
MANE Select
NP_005121.1:n.-20-117G>A
ENST00000382333.2:c.-20-117G>A
MANE Select
ENSP00000371770.1:n.-20-117G>A
NM_005130.4:c.-20-117G>A
NP_005121.1:n.-20-117G>A
ENST00000382333.1:c.-20-117G>A
ENSP00000371770.1:n.-20-117G>A
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