ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645475950
Gene: MFRP
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000297293
RCV000370794
RCV001065992
ClinVar Variation:
302968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_113621.1:p.Ala195Thr
CA10638022
NM_031433.4:c.583G>A