ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645475971
Gene: MFRP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_113621.1:p.Ile492Asn
CA10638015
NM_031433.4:c.1475T>A