ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298543
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000159854
RCV000466347
RCV001076357
RCV002345550
ClinVar Variation:
182082
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala1843Glu
CA003698
NM_007294.4:c.5528C>A