ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826467506
Gene: EPB41L1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001198025
ClinVar Variation:
931461
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245259.1:p.Val556Ala
CA9840213
NM_001258330.1:c.1667T>C