ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830767484
Gene: CALM1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.9125903249
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008819.1:p.Asn98Phe
CA2579770828
NM_006888.5:c.292_293delinsTT