ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825484217
Gene: TCTN1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000243338
RCV000724004
RCV001085845
RCV003137704
ClinVar Variation:
194019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001076006.1:p.Ile491Phe
CA239794
NM_001082537.3:c.1471A>T