ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573269545
Gene: ACTL6B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057272.1:p.Gly417Trp
CA368540311
NM_016188.5:c.1249G>T