ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916003831
Gene: EDNRB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
255141
ClinVar RCV Id:
RCV000245461
RCV000381908
RCV000962313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188326.1:p.Thr334Met
CA7012280
NM_001201397.1:c.1001C>T