ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825564601
Gene: ECE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001106819.1:p.Gly640Arg
CA664971
NM_001113348.2:c.1918G>A
CA664973
NM_001113348.2:c.1918G>C