ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825564548
Gene: ECE1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001106818.1:p.Gly644Arg
CA664971
NM_001113347.2:c.1930G>A
CA664973
NM_001113347.2:c.1930G>C