ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580189105
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003048169
ClinVar Variation:
2131363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269606.1:p.Ala113Thr
CA368202971
NM_001282677.2:c.337G>A