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ClinGen Allele Registry
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Canonical Allele Identifier:
CA101434181
Community Standard Title: NC_000004.12:g.89057649C>A
Gene: FAM13A
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.89057649C>A , CM000666.2:g.89057649C>A
GRCh38
NC_000004.11:g.89978800C>A , CM000666.1:g.89978800C>A
GRCh37
NC_000004.10:g.90197823C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000502459.5:n.358-28000G>T
XM_005262682.2:c.-33-28000G>T
XP_005262739.1:n.-33-28000G>T
XM_011531518.1:c.-659-28000G>T
XP_011529820.1:n.-659-28000G>T
XM_017007627.1:c.-422-28000G>T
XP_016863116.1:n.-422-28000G>T
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