ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830286492
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18430
ClinVar RCV Id:
RCV000005298
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_671737.1:p.Pro739Ala
CA117187
NM_147204.2:c.2215C>G