ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102818
Gene: ACSF3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000024132
RCV000185748
RCV001274019
RCV003415738
ClinVar Variation:
31136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120686.1:p.Glu359Lys
CA129707
NM_001127214.4:c.1075G>A