ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741927484
Gene: NUMA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006176.2:p.Arg2081His
CA6166430
NM_006185.4:c.6242G>A