ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658668065
Gene: HSPB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447531
ClinVar RCV Id:
RCV000516728
RCV000789962
RCV000820858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001531.1:p.Thr180Ile
CA367766323
NM_001540.5:c.539C>T