ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826116193
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000023427
RCV000202521
RCV004549386
ClinVar Variation:
30470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170902.1:p.Thr55Ile
CA129242
NM_001177431.1:c.164C>T