ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658667492
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
463208
ClinVar RCV Id:
RCV000534650
RCV001563231
RCV002431587
RCV001099123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001094.1:p.Asp893Asn
CA1473513
NM_001103.4:c.2677G>A