ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA174664
Gene: ERBIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161721
ClinVar RCV Id:
RCV000149257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001240628.1:p.Tyr1300Phe
CA174662
NM_001253699.2:c.3899A>T