ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826689165
Gene: ACSF3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
972111
ClinVar RCV Id:
RCV001248069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001271245.1:p.Ala253Asp
CA8238286
NM_001284316.2:c.758C>A