ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097987
Gene: ACTN4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005754
RCV000991481
ClinVar Variation:
5421
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004915.2:p.Thr259Ile
CA117533
NM_004924.6:c.776C>T