ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826116018
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4998
ClinVar RCV Id:
RCV000005287
RCV000005288
RCV000202554
RCV000624630
RCV000707315
RCV001311314
RCV001253672
RCV003388565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170899.1:p.Pro752Leu
CA117176
NM_001177428.1:c.2255C>T