ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499237780
Gene: EHBP1L1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001675154
ClinVar Variation:
1265858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092879.1:p.Val538Gly
CA6102063
NM_001099409.3:c.1613T>G