ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268057
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000112057
RCV001019908
RCV001326900
ClinVar Variation:
54834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.His1105Asn
CA002137
NM_007294.4:c.3313C>A