ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645377390
Gene: EPB41L1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
402208
ClinVar RCV Id:
RCV000454281
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245258.1:p.Arg638Cys
CA16609541
NM_001258329.1:c.1912C>T