ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645505167
Gene: ACTN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265272.1:p.Asp475Asn
CA133135
NM_001278343.2:c.1423G>A