ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279047
Gene: HSPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216941
ClinVar RCV Id:
RCV000200544
RCV002225501
RCV002517300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002147.2:p.Ala536Val
CA279046
NM_002156.5:c.1607C>T