ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645403108
Gene: PEX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224323
ClinVar RCV Id:
RCV001795343
RCV002500674
RCV000240689
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000278.3:p.Thr572Ile
CA10575897
NM_000287.4:c.1715C>T