ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826118150
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000005287
RCV000005288
RCV000202554
RCV000624630
RCV000707315
RCV001253672
RCV001311314
RCV003388565
ClinVar Variation:
4998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170904.1:p.Pro692Leu
CA117176
NM_001177433.1:c.2075C>T