ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803613
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000592002
RCV001275212
RCV003905523
ClinVar Variation:
498032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Asn1124Ser
CA4340846
NM_000466.3:c.3371A>G