ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830457285
Gene: AFAP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_940997.1:p.Ile599Val
CA2846586
NM_198595.3:c.1795A>G