ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580313747
Gene: ACTN4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004915.2:p.Gly195Val
CA405692928
NM_004924.6:c.584G>T