ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658808378
Gene: MTFMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
516309
ClinVar RCV Id:
RCV001719088
RCV002528719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_640335.2:p.Arg6Pro
CA7613442
NM_139242.4:c.17G>C