ClinGen Allele Registry
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Canonical Allele Identifier:
PA916010048
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
390314
ClinVar RCV Id:
RCV000435130
RCV000560681
RCV001798812
RCV004022467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265272.1:p.Gly7Ser
CA16603593
NM_001278343.2:c.19G>A