ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826359527
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_001240627.1:p.Tyr1252Phe
CA174662
NM_001253698.2:c.3755A>T