ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3072130877
Gene: CARMIL1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060110.4:p.Val77Ile
CA3659944
NM_017640.6:c.229G>A