ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580400559
Gene: ACTL6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2429721
ClinVar RCV Id:
RCV003127175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057272.1:p.Pro371Ala
CA368542083
NM_016188.5:c.1111C>G