ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826788944
Gene: ECEL1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000171336
RCV000502956
ClinVar Variation:
191152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277716.1:p.Arg404Cys
CA236127
NM_001290787.1:c.1210C>T