ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916056044
Gene: USH1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
667351
ClinVar RCV Id:
RCV000826070
RCV002249534
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_710142.1:p.Pro667Leu
CA379772393
NM_153676.4:c.2000C>T