ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829629693
Gene: TSFM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418526
ClinVar RCV Id:
RCV000486103
RCV002526516
RCV001109601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005717.3:p.Ser215Phe
CA6659423
NM_005726.6:c.644C>T