ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645440268
Gene: UCHL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375650
ClinVar RCV Id:
RCV000417145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004172.2:p.Ala216Asp
CA16044410
NM_004181.5:c.647C>A