ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825909947
Gene: MTFR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2343624
ClinVar RCV Id:
RCV004183790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139311.1:p.Arg215Thr
CA4764766
NM_001145839.2:c.644G>C