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ClinGen Allele Registry
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Canonical Allele Identifier:
CA2580574804
Community Standard Title: NC_000009.12:g.127800446C>A
Gene: FPGS
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.127800446C>A , CM000671.2:g.127800446C>A
GRCh38
NC_000009.11:g.130562725C>A , CM000671.1:g.130562725C>A
GRCh37
NC_000009.10:g.129602546C>A
NCBI36
NG_023245.1:g.2572C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000479147.6:n.217-3839C>A
ENST00000479375.6:n.132-3839C>A
Search 100 bp 5'
Search 100 bp 3'