ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645389654
Gene: MTFMT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374493
ClinVar RCV Id:
RCV000416005
RCV000441542
RCV003902461
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_640335.2:p.Arg6Trp
CA7613443
NM_139242.4:c.16C>T