ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827140122
Gene: ACTN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427769
ClinVar RCV Id:
RCV000490712
RCV001755729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308962.1:p.Met240Thr
CA405696096
NM_001322033.2:c.719T>C