ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580272979
Gene: INSM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002187.1:p.Pro403Leu
CA9782795
NM_002196.3:c.1208C>T