ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645381739
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
390141
ClinVar RCV Id:
RCV001288531
RCV001851063
RCV002393035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_067638.3:p.Ser48Leu
CA6780614
NM_021625.5:c.143C>T