ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826117187
Gene: TRPV4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
469035
ClinVar RCV Id:
RCV001755851
RCV002227939
RCV000550504
RCV001172897
RCV002384175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001170904.1:p.Ser46Phe
CA6780616
NM_001177433.1:c.137C>T