ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099473
Gene: ACTN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000034867
ClinVar Variation:
42029
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001093.1:p.Gln32Lys
CA130961
NM_001102.4:c.94C>A