ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829683136
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2565340
ClinVar RCV Id:
RCV003288416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asn1444His
CA10593066
NM_007294.4:c.4330A>C