ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658811210
Gene: EDNRB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
504853
ClinVar RCV Id:
RCV000839975
RCV000614742
RCV001111746
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188326.1:p.Val350Ile
CA7012261
NM_001201397.1:c.1048G>A