ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915998336
Gene: EDNRB
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000221012
RCV000297140
RCV000897477
ClinVar Variation:
226623
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003982.1:p.Leu17Phe
CA7012405
NM_003991.4:c.49C>T