ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741958751
Gene: ACTL6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2500133
ClinVar RCV Id:
RCV003331529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057272.1:p.Gly295Asp
CA368543027
NM_016188.5:c.884G>A