ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689315
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482935
ClinVar RCV Id:
RCV000571829
RCV000792382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro467Thr
CA10598972
NM_007297.4:c.1399C>A