ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105739
Gene: TSFM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005717.3:p.Arg312Trp
NM_005726.6:c.934C>T