ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139766613
Gene: ACSF3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
955612
ClinVar RCV Id:
RCV001228285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_777577.2:p.Val489Leu
CA8238225
NM_174917.5:c.1465G>T
CA8238227
NM_174917.5:c.1465G>C