ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102848
Gene: ACSF3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001120686.1:p.Met198Arg
NM_001127214.4:c.593T>G