ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828407384
Gene: EYA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000678554
RCV004554820
ClinVar Variation:
560446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357265.1:p.Ala501Val
CA4779428
NM_001370336.1:c.1502C>T