ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099341
Gene: MTFMT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000033047
RCV000190888
RCV000320667
RCV000415235
RCV000735417
RCV002251943
RCV002477042
RCV002513312
ClinVar Variation:
39827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_640335.2:p.Ser209Leu
CA130599
NM_139242.4:c.626C>T