ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830286330
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409288
ClinVar RCV Id:
RCV000468536
RCV000765040
RCV001173491
RCV001764416
RCV002418397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Ser599Leu
CA6780041
NM_147204.2:c.1796C>T