ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA129708
Gene: ACSF3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31136
ClinVar RCV Id:
RCV000024132
RCV000185748
RCV001274019
RCV003415738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_777577.2:p.Glu359Lys
CA129707
NM_174917.5:c.1075G>A