ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580493589
Gene: CREB3L1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443086.1:p.His212Arg
CA5961648
NM_052854.4:c.635A>G