ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063878687
Gene: ECE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001388.1:p.Arg754Ser
CA339254647
NM_001397.3:c.2260C>A