ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057550037
Gene: PEX1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000007951
ClinVar Variation:
7518
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Arg428_Leu480del
CA254195
NM_001282678.2:c.1282_1440del