ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328000
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000577611
RCV000985438
RCV001326887
ClinVar Variation:
55531
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp1778His
CA003492
NM_007294.4:c.5332G>C