ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139707560
Gene: HSPB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
917324
ClinVar RCV Id:
RCV001174173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001531.1:p.Arg79Trp
CA367763170
NM_001540.5:c.235C>T